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Salmo Raskin

Dados pessoais

  • HS Health Sciences
  • LS Life Sciences
  • MU Multidisciplinary
  • PS Physical Sciences
  • SH Social Sciences & Humanities
# Nome Links Grande Área Área
1 Acary Souza Bulle OLIVEIRA Ciências da Saúde Medicina
2 Ana Cristina Garcia DIAS Ciências Humanas Psicologia
3 Ana Tereza Bittencourt GUIMARÃES Ciências Exatas e da Terra Probabilidade e Estatística
4 Bianca Simone ZEIGELBOIM Ciências da Saúde Fonoaudiologia
5 Carlos Antonio RIEDI Ciências da Saúde Medicina
6 Damacio Ramón Kaimen MACIEL Ciências da Saúde Medicina
7 Débora Romeo BERTOLA Ciências da Saúde Medicina
8 Decio BRUNONI Ciências Biológicas Genética
9 Eliasz ENGELHARDT Ciências da Saúde Medicina
10 Francisco Baptista Assumpção JUNIOR Ciências da Saúde Medicina
11 Francisco Eduardo Costa CARDOSO Ciências da Saúde Medicina
12 Gladys Mary Ghizoni TEIVE Ciências Humanas Educação
13 Honorio Sampaio MENEZES Ciências da Saúde Medicina
14 Iscia Teresinha Lopes CENDES Ciências Biológicas Genética
15 Juan Clinton Llerena JUNIOR Ciências da Saúde Medicina
16 Lineu Cesar WERNECK Ciências da Saúde Medicina
17 Luiz De Lacerda FILHO Ciências da Saúde Medicina
18 Mara Lúcia CORDEIRO Ciências da Saúde Medicina
19 Naiana Dapieve PATIAS Ciências Humanas Psicologia
20 Roberto GIUGLIANI CpE Ciências Biológicas Genética
21 Sérgio Antonio ANTONIUK Ciências da Saúde Medicina
Figura 1. Número de publicações por ano e por tipo, considerando todas as publicações.
  1. Life Sciences Genetics
    Jessica Braz DUARTE; Isabelle Caroline FASOLO; Normandia MOREIRA; Naiara Pegoraro BOZZA; Gabriela Esmanhoto RODRIGUES et al. 2021. Case report of autistic spectrum disorder with molecular analysis by a-cgh. In: Xxxii congresso brasileiro de genética médica. Brasil.
  2. Physical Sciences Engineering (miscellaneous)
    Alana WEINGARTNER; Gabriela Esmanhoto RODRIGUES; Naiara Bozza PEGORARO; Rie Tiba MAGLIONI; Aline Sauzem MILANO et al. 2021. Autism and duplication of 17q12q21q.2 by array-cgh: a case report. In: Xxxii congresso brasileiro de genética médica. Brasil.
  3. Life Sciences Genetics
    Helio TEIVE; Salmo RASKIN; Lineu C WERNECK; Et AL. 2005. Doença de huntinghton-like 2: apresentação de 1 caso. In: V encontro da sociedade brasileira de investigação neurológica - sbin. Brasil.
  4. Life Sciences Genetics
    Helio Ghizoni TEIVE; Salmo RASKIN; Et AL. 2005. Paraparesia espástica hereditária (locus spg6) numa família brasileira: correlação genótipo-fenótipo. In: V encontro da sociedade brasileira de investigação neurológica - sbin. Brasil.
  5. Life Sciences Genetics
    Helio Ghizoni TEIVE; Salmo RASKIN; Walter ARRUDA; Lineu C WERNECK; Et AL. 2005. Early-onset and reduced penetrance in a brazilian family with spinocerebellar ataxia type x: implications for pathogenesis; molecular diagnosis and genetic counseling for sca type 10 families. In: 58th annual meeting of the american academy of neurology. Brasil.
  6. Health Sciences Genetics (clinical)
    Helio TEIVE; Salmo RASKIN. 2004. Genotype-phenotype correlation in 100 families with spinocerebelar ataxias. In: 56th american academy of neurology - annual meeting. Estados Unidos.
  7. Life Sciences Genetics
    Helio Ghizoni TEIVE; Alonso I; Jardin I; Salmo RASKIN; Et AL. 2004. Spinocerebelar ataxia type i 10 attct pentanucleotide repeat expansions in multiple brazilian families. In: American society of human genetics congress. Estados Unidos.
  8. Social Sciences & Humanities Education
    Aghata MARTARELLO; Salmo RASKIN; Lilian Pereira FERRARI. 2003. Sindrome de alport: estudo de três famílias apresentando diferentes padrões de herança. In: Congresso brasileiro de genética clínica. Brasil.
  9. Life Sciences Genetics
    T BRANCO; V R ALMEIDA; A DALLASTA; Salmo RASKIN. 2002. Sindrome de smith-lemli-opitz; um erro inato do metabolismo do colesterol levando à malformação: relato de um caso. In: Vii encontro nacional da sociedade brasileira de neurologia infantil. Brasil.
  10. Life Sciences Genetics
    D R Kaimen MACIEL; M C R MEDEIROS; L S TAZO; V M CLIMACO; R F GAMA et al. 2001. A study of one family with kennedy disease. In: A study of one family with kennedy disease. Estados Unidos.
  11. Social Sciences & Humanities Psychology (miscellaneous)
    Vahia Loureiro A M; C P FROTA; Salmo RASKIN; M G MOREIRA; O FERNANDES et al. 2001. Possibilidade de soronegativação de teste anti-hiv: relato de caso. In: Possibilidade de soronegativação de teste anti-hiv: relato de caso. Brasil.
  12. Social Sciences & Humanities Psychology (miscellaneous)
    Salmo RASKIN. 2001. Melhor relato de caso - síndrome de louis bar - diagnóstico por teste de dna. In: Xv conclave científico de acadêmicos de medicina. Brasil.
  13. Life Sciences Genetics
    F R FAUCZ; Salmo RASKIN; L PEREIRA; M J DUCK; I GOLDENSTEIN et al. 2000. Análise molecular do gene da fibrose cística (cftr) no estado de santa catarina. In: Xii congresso brasileiro de genética clínica. Brasil.
  14. Social Sciences & Humanities Education
    Salmo RASKIN. 1999. Sindrome de goldenhar: relato de caso e revisão de literatura. In: Sindrome de goldenhar: relato de caso e revisão de literatura. Brasil.
  15. Health Sciences Genetics (clinical)
    F R FAUCZ; Salmo RASKIN; L PEREIRA; X ESTIVILL; L CULPI. 1999. Fibrose cística em negróides brasileiros: identificação de seis novas mutações e caracterização de mais de 80% dos alelos. In: 45 congresso nacional de genética. Brasil.
  16. Health Sciences Health Professions (miscellaneous)
    Salmo RASKIN. 1999. A evolução das perícias médicas na investigação de paternidade: dos redemoinhos do cabelo ao dna. In: Congresso brasileiro de direito da família. Brasil.
  17. Life Sciences Genetics
    Salmo RASKIN; Phillips J A III; Kaplan G; Mcclure M; Vnencak Jones C et al. 1998. Geographic heterogeneity of four common worldwide cystic fibrosis non-f508 mutations in brazil. In: Geographic heterogeneity of four common worldwide cystic fibrosis non-f508 mutations in brazil. Estados Unidos.
  18. Health Sciences Neurology (clinical)
    Salmo RASKIN; V H ZETOLA; R H SCOLA; D M PREVEDELLO; Y Correa NETO et al. 1998. Rigid spine syndrome. case report. In: Rigid spine syndrome. case report. Estados Unidos.
  19. Life Sciences Neurology
    Salmo RASKIN; L S TAZO; G L R KELIAN; L G ABREU; F N TREVISAN et al. 1998. Doença de chacot-marie-tooth com sinais piramidais. descrição de uma família. In: Xli congresso médico de londrina. Brasil.
  20. Health Sciences Neurology (clinical)
    Salmo RASKIN; Ribeiro E M; Fontenele F J; Arruda A P; Amorin L H. 1997. Multiple hamartoma syndrome. In: 9th international congress of human genetics. Brasil.
  21. Health Sciences Genetics (clinical)
    Salmo RASKIN; Bertollo E M G; Conte A C F; Salomão J B; Pereira L. 1997. Análise molecular para 32 mutações em pacientes com fibrose cística. In: Ix congresso brasileiro de genética clínica; xii encontro de genética do nordeste. Brasil.
  22. Health Sciences Genetics (clinical)
    Salmo RASKIN; Martineli A M R; De Lacerda L; Braga M; Graf H. 1997. Description of a brazilian patient bearing the r271w; pit-1 gene mutation. In: Vii congreso sociedad latinoamericana de tiroides. Chile.
  23. Health Sciences Neurology (clinical)
    Salmo RASKIN; Ribeiro E M; Fontenele F J; Arruda A P; Amorim L H. 1996. Multiple hamartona syndrome. In: 9th international congress of human genetics. Estados Unidos.
  24. Life Sciences Neurology
    Gasparini P; Fortina P; Estivil X; Salmo RASKIN; Totaro A et al. 1996. International consortium for deafness study (brasil-italy-spain-usa). the contribution of dend1 lesus to neurosensory recessive deafness in the italian population. In: European society of human genetics. Estados Unidos.
  25. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Sotomaior V; Braga F; São Pedro S; Koneski J; Coelho Neto M et al. 1996. Diagnóstico rápido de infecção herpética pela técnica de pcr. In: Xxx congresso brasileiro de patologia clínica. Brasil.
  26. Life Sciences Genetics
    Salmo RASKIN; Sotomaior V; Janzen M; Singer L; Ribeiro M et al. 1996. Genotipagem para hepatite c como prognóstico de resposta ao interferon. In: Xxx congresso brasileiro de patologia clínica. Brasil.
  27. Life Sciences Neurology
    Salmo RASKIN; Sotomaior V; Janzen M; Picchi C F A; Teive H et al. 1996. Doença de huntington - teste de dna no brasil. In: Viii reunião anual da sbgc. Brasil.
  28. Life Sciences Genetics
    Salmo RASKIN; Carvalho G; Maciel B; Oliveira M; Miyashiro K et al. 1996. Ausência de mutações oncogênicas nas regiões hot spot do receptor de tsh em nódulos autônomos hiperfuncionantes estudados em são paulo. In: Ausência de mutações oncogênicas nas regiões hot spot do receptor de tsh em nódulos autônomos hiperfuncionantes estudados em são paulo. Brasil.
  29. Health Sciences Genetics (clinical)
    Salmo RASKIN. 1995. Epidemologia das mutações fibrose cistica. In: Iv congresso brasileiro de pneumologia pediátrica. Brasil.
  30. Health Sciences Medicine (miscellaneous)
    Salmo RASKIN; Sotomaior V; Schulman L; Goldenstein I; Piazza A et al. 1995. Uso da técnica de pcr no diagnóstico de talassemia. In: Xv congresso nacional do colégio brasileiro de hematologia. Brasil.
  31. Health Sciences Genetics (clinical)
    Maróstica P; Santos J; Souza W; Salmo RASKIN; Silva F. 1995. Estimativa da incidência de fibrose cística em porto alegre - análise a partir da frequência da mutação df508 em recém-nascidos normais. In: Estimativa da incidência de fibrose cística em porto alegre - análise a partir da frequência da mutação df508 em recém-nascidos normais. Brasil.
  32. Health Sciences Genetics (clinical)
    Salmo RASKIN; Phillips J A III; Krisgnamani M R S; Vnencak Jones C; Parker R A et al. 1994. Regional distribution of cystic fibrosis linked dna haplotypes in brazil; a multicenter study. In: Regional distribution of cystic fibrosis linked dna haplotypes in brazil; a multicenter study. Estados Unidos.
  33. Life Sciences Genetics
    Chakraborty R; Srinivasan M; Salmo RASKIN. 1993. Estimation of the incidence of a rare genetic disease through a two-tier mutation survey. In: Estimation of the incidence of a rare genetic disease through a two-tier mutation survey. Estados Unidos.
  34. Life Sciences Neurology
    Taylor B; Salmo RASKIN; Phillips J A III. 1993. Use of a pcr-rflp for mapping the pit-1 gene in recombinant inbred strains. In: Use of a pcr-rflp for mapping the pit-1 gene in recombinant inbred strains. Estados Unidos.
  35. Life Sciences Genetics
    Salmo RASKIN; Phillips J A III; Summar M L; Sherrill C G; Garr J L et al. 1992. Chromosomal assignment of the human pituitary-specific transcription factor gene and its analysis in familial panhypopiytuitary dwarfism. In: 74th annual meeting of the endocrine society. Estados Unidos.
  36. Life Sciences Genetics
    Salmo RASKIN; Phillips J A III; Summar M L; Sherrill C G; Garr J L et al. 1992. Chromosomal assignment of the human pituitary-specific transcripiton factor (pit-1) gene and its analysis in familial panhypopituitary dwarfism. In: Chromosomal assignment of the human pituitary-specific transcripiton factor (pit-1) gene and its analysis in familial panhypopituitary. Estados Unidos.
  37. Life Sciences Genetics
    Jurado L P; Argente J; Salmo RASKIN; Garcia F; Phillips J A III. 1992. Genetic analysis of familial isolated growth hormone (gh) deficiency type ii. In: Genetic analysis of familial isolated growth hormone (gh) deficiency type ii. Estados Unidos.
  38. Health Sciences Genetics (clinical)
    Salmo RASKIN; Phillips J A III; Kaplan G; Mcclure M; Dawson E et al. 1992. Dna analysis estimated a ten folf much higler-than-predicted incidense of cf in brazil. In: Dna analysis estimated a ten folf much higler-than-predicted incidense of cf in brazil. Estados Unidos.
  39. Health Sciences Medicine (miscellaneous)
    Silva A; Marostiça P; Salmo RASKIN. 1992. The social and medical conditions of cf patients in a developing country. In: The social and medical conditions of cf patients in a developing country. Estados Unidos.
  40. Life Sciences Genetics
    Reis F J C; Salmo RASKIN; Phillips J A III. 1992. Cystic fibrosis carrier frequency by newborn screening and by df508 analysis of the general caucasian population of minas gerais; brazil. In: Cystic fibrosis carrier frequency by newborn screening and by df508 analysis of the general caucasian population of minas gerais; brazil. Estados Unidos.
  41. Life Sciences Genetics
    Salmo RASKIN; Phillips J A III; Kaplan G; Dawson E; Rozov T et al. 1992. Molecular basis of cystic fibrosis in brazil. In: Proceedings of the eleventh international cystic fibrosis congress. Irlanda.
  42. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Salmo RASKIN; Phillips J A III; Parker R; Kaplan G; Mcclure M et al. 1992. Dna analysis of cystic in brazil. In: Congresso mundial de pediatria. Brasil.
  43. Health Sciences Medicine (miscellaneous)
    Salmo RASKIN; Phillips J A III; Parker R; Kaplan G; Mcclure M et al. 1992. Cystic fibrosis diagnosis by dna analysis in brazilian meconium ileus patients. In: Congresso mundial de pediatria. Brasil.
  44. Health Sciences Pediatrics, Perinatology and Child Health
    Salmo RASKIN; Phillips J A III; Kaplan G; Mcclure M; Dawson E et al. 1992. Dna data suggests the incidense of cf in brazil may be ten fold more than observed. In: Dna data suggests the incidense of cf in brazil may be ten fold more than observed. Estados Unidos.
  45. Health Sciences Medicine (miscellaneous)
    Phillips J A III; Cogan J D; Salmo RASKIN; Parker R. 1992. Pedigree analysis of familial growth hormone (gh) deficiency. In: Pedigree analysis of familial growth hormone (gh) deficiency. Estados Unidos.
  46. Health Sciences Genetics (clinical)
    Salmo RASKIN. 1991. Different frequencies of cystic fibrosis in brazil. In: Different frequencies of cystic fibrosis in brazil. Brasil.
  47. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Salmo RASKIN; Phillips J A III; Vnencak Jones C L; Rozov T; Rosario N et al. 1991. Genetic analysis of brazilian cystic fibrosis genes. In: Genetic analysis of brazilian cystic fibrosis genes. Brasil.
  48. Health Sciences Genetics (clinical)
    Salmo RASKIN; Phillips J A III; Krishnamani M R S; Rozov T; Rosario N et al. 1991. Different frequencies of f508 cystic fibrosis mutation detected in brazilian states by patient screening. In: Different frequencies of f508 cystic fibrosis mutation detected in brazilian states by patient screening. Brasil.
  49. Health Sciences Genetics (clinical)
    Salmo RASKIN; Phillips J A III; Vnencak Jones C L; Rosov T; Rosario N et al. 1991. Genetic analysis of brazilian cystic fibrosis genes. In: Genetic analysis of brazilian cystic fibrosis genes. Estados Unidos.
  50. Life Sciences Genetics
    Salmo RASKIN; Phillips J A III; Vnencak Jones C; Parker R A; Rozov T et al. 1991. Molecular heterogeneity and geographic differences in brazilian cystic fibrosis. In: Molecular heterogeneity and geographic differences in brazilian cystic fibrosis. Estados Unidos.
  51. Life Sciences Genetics
    Salmo RASKIN; Phillips J A III; Kaplan G; Mcclure M; Vnencak Jones C. 1991. Cystic fibrosis (cf) genotyping by direct pcr of guthrie blood spots. In: Cystic fibrosis (cf) genotyping by direct pcr of guthrie blood spots. Estados Unidos.
  52. Life Sciences Genetics
    Salmo RASKIN; Phillips J A III; Kaplan G; Mcclure M; Vnencak Jones C et al. 1991. The composition of brazilian cystic fibrosis mutations. In: The composition of brazilian cystic fibrosis mutations. Estados Unidos.
  53. Health Sciences Medicine (miscellaneous)
    Salmo RASKIN; Phillips J A III; Dawson E; Kaplan G; Mcclure M. 1991. Use of internal markers to improve the accurary of cystic fibrosis (cf) genotyp analyses. In: Use of internal markers to improve the accurary of cystic fibrosis (cf) genotyp analyses. Estados Unidos.
  54. Life Sciences Genetics
    Salmo RASKIN; Phillips J A III; Vnencak Jones C; Parker R A; Rozov T et al. 1991. Molecular heterogeneity and geografic differences in brazilian cystic fibrosis (cf) alleles. In: Molecular heterogeneity and geografic differences in brazilian cystic fibrosis (cf) alleles. Estados Unidos.
  55. Health Sciences Pediatrics, Perinatology and Child Health
    Salmo RASKIN; Menezes S; Jacobovicz J; Sampaio G; Goldim J R. 1991. Mortalidade infantil em hospital universitário - estudo de 127 necropsias. In: Xxvii congresso brasileiro de pediatria. Brasil.
  56. Health Sciences Neurology (clinical)
    Salmo RASKIN; Menezes H S; Jacobovicz J; Sampaio G; Goldim J R. 1991. Perfil da neomortalidade em hospital universitário - estudo de 308 necropsias. In: Xxvii congresso brasileiro de pediatria. Brasil.
  57. Health Sciences Neurology (clinical)
    Salmo RASKIN; Menezes H S; Jacobovicz J; Sampaio G; Goldim J R. 1991. Natimortalidade em hospital universitário - estudo de 472 necropsias. In: Xxvii congresso brasileiro de pediatria. Brasil.
  58. Life Sciences Genetics
    Salmo RASKIN; Rozov T; Carldieri J; Silva F; Fischer E et al. 1991. Fibrose cística na brasil - análise epidemiológica. In: Xxvii congresso brasileiro de pediatria. Brasil.
  59. Life Sciences Genetics
    Salmo RASKIN; Rozov T; Caldieri J; Abreu F; Fischer E et al. 1991. Fibrose cística no brasil - analise genética. In: Xxvii congresso brasileiro de pediatria. Brasil.
  60. Health Sciences Genetics (clinical)
    Salmo RASKIN; Rozov T; Caldieri J; Abreu F; Fischer R et al. 1991. Estudo piloto da incidência de fibrose cística e da frequência de portadores no brasil - baseado em screening neonatal da mutação df508. In: Iv congresso latinoamericano de fibrosis quistica. Uruguai.
  61. Health Sciences Genetics (clinical)
    Salmo RASKIN; Phillips J A III; Kaplan G; Mcclure M. 1991. Análise genética molecular do gene da fibrose cística por amplificação direta de uma gota de sangue em papel filtro. In: Iv congresso latinoamericano de fibrosis quistica. Uruguai.
  62. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Salmo RASKIN; Phillips J A III; Dawson E; Kaplan G; Mcclure M. 1991. Uso de marcadores internos para comprovar a fidelidade da análise genotípica do gene da fibrose cística. In: Iv congresso latinoamericano de fibrosis quistica. Uruguai.
  63. Life Sciences Genetics
    Salmo RASKIN; Rozov T; Caldieri J; Abreu F; Fischer E et al. 1991. Fibrose cística no brasil - análise epidemiológica multicêntrica. In: Iv congresso latinoamericano de fibrosis quistica. Uruguai.
  64. Health Sciences Genetics (clinical)
    Salmo RASKIN; Rozov T; Caldieri J; Abreu F; Fischer E et al. 1991. Frequência das mutações do gene da fibrose cística no brasil. In: Iv congresso latinoamericano de fibrosis quistica. Uruguai.
  65. Life Sciences Genetics
    Salmo RASKIN; Rozov T; Caldieri J; Abreu F; Fischer E et al. 1991. Distribuição heterogênea dos alelos do gene da fibrose cística no brasil detectada por estudos de haplótipos. In: Iv congresso latinoamericano de fibrosis quistica. Uruguai.
  66. Health Sciences Medicine (miscellaneous)
    Marostiça P J C; Leite V L; Salmo RASKIN; Silva A. 1991. Incidência da mutação df508 numa população de portadores de fibrose cistica e sua relação com achados clínicos. In: Iv congresso latinoamericano de fibrosis quistica. Uruguai.
  67. Health Sciences Medicine (miscellaneous)
    Luchese G L; Santos J A; Jones M H; Fischer G B; Marostiça P et al. 1991. Características da população de pacientes com fibrose cística atendida no hospital de clínicas de porto alegre. In: Iv congresso latinoamericano de fibrosis quistica. Uruguai.
  68. Life Sciences Genetics
    Salmo RASKIN; Reis F; Phillips J A III. 1991. Análise molecular e correlação genótipo/fenótipo em fibrose cística - estudo de 25 pacientes de minas gerais/brasil. In: Iv congresso latinoamericano de fibrosis quistica. Uruguai.
  1. Life Sciences Neurology
    Strong ALANNA; Rao SOUMYA; Von Hardenberg SANDRA; Li DONG; Cox Liza L et al. 2023. A mutational hotspot in defines a new syndrome of orofacial clefting; cardiac anomalies; and tall stature. American journal of medical genetics part a. 63130, 1-10.
  2. Life Sciences Cognitive Neuroscience
    Weingartner ALANA; Pegoraro Naiara BOZZA; Maglioni Rie TIBA; Moreira Isabelle Caroline Fasolo NORMANDIA; Rodrigues Gabriela ESMANHOTO et al. 2023. Autism and duplication of 17q12q21.2 by array-cgh: a case report. Revista paulista de pediatria (online). 41, 1-5.
  3. Life Sciences Genetics
    Migliavacca Michele PATRICIA; Fock Rodrigo AMBROSIO; Almeida NADIA; Cavalcanti THEREZA; Villela DARINE et al. 2023. A brazilian case of ifap syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in mbtps2. Revista paulista de pediatria (online). 41, 1-5.
  4. Life Sciences Neurology
    Tenney Alan P; Di Gioia Silvio ALESSANDRO; Webb Bryn D; Chan Wai MAN; De Boer ELKE et al. 2023. Noncoding variants alter gata2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nature genetics. xx, 1-15.
  5. Life Sciences Genetics
    Kaur MANINDER; Blair JUSTIN; Devkota BATSAL; Fortunato SIERRA; Clark DINAH et al. 2023. Genomic analyses in cornelia de lange syndrome and related diagnoses: novel candidate genes; correlations and common mechanisms. American journal of medical genetics part a. 198, 1-15.
  6. Health Sciences Medicine (miscellaneous)
    Franklin GUSTAVOLEITE; Ferreira Camargo CARLOSHENRIQUE; Balaban DANIEL; Marcon JOÃOMATHEUS; Salmo RASKIN et al. 2022. Muscle cramps profile among spinocerebellar ataxias. Annals of indian academy of neurology. 21, 1-8.
  7. Health Sciences Neurology (clinical)
    Konno Katia M; Zonta Marise BUENO; Guimarães Ana T B; Camargo Carlos Henrique F; Munhoz Renato PUPPI et al. 2021. Balance and physical functioning in spinocerebellar ataxias 3 and 10. Acta neurologica scandinavica. 143, 458-463.
  8. Life Sciences Genetics
    Sanderson Leslie E; Lanko KRISTINA; Alsagob MAYSOON; Almass RAWAN; Al Ahmadi NADA et al. 2021. Bi-allelic variants in hops complex subunit vps41 cause cerebellar ataxia and abnormal membrane trafficking. Brain. 11, 1-12.
  9. Life Sciences Neurology
    Camargo Carlos Henrique FERREIRA; Silva Aline K C PIVA; Munhoz Renato P; Salmo RASKIN; Teive Hélio Afonso GHIZONI. 2021. Spinocerebellar ataxia type 21 ( ) with tremor and dystonia. European journal of neurology. 28, ene.14944-.
  10. Life Sciences Neurology
    Arruda Walter OLESCHKO; Meira Alex TIBURTINO; Ono Sergio EIJI; De Carvalho Neto ARNOLFO; Betting Luiz Eduardo Gomes GARCIA et al. 2020. Volumetric mri changes in spinocerebellar ataxia (sca3 and sca10) patients. Cerebellum. 1, 1-8.
  11. Life Sciences Neurology
    Arruda Walter OLESCHKO; Meira Alex TIBURTINO; Ono Sergio EIJI; De Carvalho Neto ARNOLFO; Ferreira Matheus GOMES et al. 2020. Cerebellar and thalamic degeneration in spinocerebellar ataxia type 10. Parkinsonism & related disorders. 1, 1-2.
  12. Health Sciences Radiology, Nuclear Medicine and Imaging
    Meira Alex TIBURTINO; Arruda Walter OLESCHKO; Ono Sergio EIJI; Franklin Gustavo LEITE; De Carvalho Neto ARNOLFO et al. 2020. Analysis of diffusion tensor parameters in spinocerebellar ataxia type 3 and type 10 patients. Parkinsonism & related disorders. 78, 73-78.
  13. Life Sciences Neurology
    Novis Luiz EDUARDO; Spitz MARIANA; Jardim MARCIA; Salmo RASKIN; Teive Hélio A G. 2020. Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review. Arquivos de neuro-psiquiatria (online). 1, S0004-282X20200-.
  14. Health Sciences Medicine (miscellaneous)
    Pereira Eduardo R; Franklin Gustavo L; Salmo RASKIN; Teive Hélio A G. 2020. Comment on: diagnosis of <scp>aicardi-goutières</scp> syndrome in adults. Movement disorders clinical practice. 7, 583-584.
  15. Health Sciences General Medicine
    Linnenkamp Bianca Domit WERNER; Salmo RASKIN; Esposito Selene ELIFIO; Herai Roberto HIROCHI. 2020. A comprehensive analysis of ahrr gene as a candidate for cleft lip with or without cleft palate. Mutation research-reviews in mutation research. 785, 1-11.
  16. Life Sciences Genetics
    Salmo RASKIN. 2020. Genetics of covid-19. Jornal de pediatria. 923, 1-9.
  17. Health Sciences Neurology (clinical)
    Franklin Gustavo L; Camargo Carlos Henrique F; Meira Alex T; Pavanelli Giovana M; Milano Sibele S et al. 2020. Is ataxia an underestimated symptom of huntington's disease?. Frontiers in neurology. 11, 1-6.
  18. Health Sciences Neurology (clinical)
    Teive Hélio A G; Camargo Carlos Henrique F; Salmo RASKIN; Munhoz Renato P; Cardoso Francisco E C. 2019. Hyposkillia and spanophilia in the movement disorders rounds. Movement disorders. , .-.
  19. Life Sciences Genetics
    Domingues Bernardo Machado DIAS; Nascimento Fábio A; Meira Alex TIBURTINO; Moro ADRIANA; Salmo RASKIN et al. 2019. Clinical and genetic evaluation of spinocerebellar ataxia type 10 in 16 brazilian families. Cerebellum. , 1-.
  20. Life Sciences Genetics
    Nascimento Fábio A; Rodrigues Vinícius O R; Pelloso Fernando C; Camargo Carlos Henrique FERREIRA; Moro ADRIANA et al. 2019. Spinocerebellar ataxias in southern brazil: genotypic and phenotypic evaluation of 213 families. Clinical neurology and neurosurgery. 184, 105427-.
  21. Health Sciences Medicine (miscellaneous)
    Meira Alex TIBURTINO; Arruda Walter OLESCHKO; Sergio Eiji ONO; Arnolfo De Carvalho NETO; Salmo RASKIN et al. 2019. Neuroradiological findings in the spinocerebellar ataxias. Tremor and other hyperkinetic movements. 9, 1-8.
  22. Life Sciences Behavioral Neuroscience
    Choi Jung HWA; Jeong Yun MI; Kim SUJIN; Lee BOYOUNG; Ariyasiri KRISHAN et al. 2018. Targeted knockout of a chemokine-like gene increases anxiety and fear responses. Proceedings of the national academy of sciences of the united states of america. -, 201707663--.
  23. Life Sciences Neurology
    London ESTER; Camargo Carlos H F; Zanatta ALESSANDRA; Crippa Ana C; Salmo RASKIN et al. 2018. Sleep disorders in spinocerebellar ataxia type 10. Journal of sleep research. e12688, e12688-.
  24. Life Sciences Neurology
    Silva Giulia VILELA; Bonilha PATRICIA; Moro ADRIANA; Munhoz RENATO; Salmo RASKIN et al. 2018. Spinocerebellar ataxias type 3 and 10: onset and progression of ataxia during pregnancy and puerperium. Parkinsonism & related disorders. 18, S1353-8020-.
  25. Health Sciences Neurology (clinical)
    Catai Ligia Maria PERRUCCI; Camargo Carlos Henrique FERREIRA; Moro ADRIANA; Ribas GUSTAVO; Salmo RASKIN et al. 2018. Dystonia in patients with spinocerebellar ataxia 3 - machado-joseph disease: an underestimated diagnosis?. The open neurology journal. 12, 41-49.
  26. Life Sciences Neuroscience (miscellaneous)
    Moscovich MARIANA; Munhoz Renato PUPPI; Moro ADRIANA; Salmo RASKIN; Mcfarland KAREN et al. 2018. Olfactory function in sca10. Cerebellum. , .-.
  27. Health Sciences Genetics (clinical)
    Zanatta ALESSANDRA; Camargo Carlos Henrique FERREIRA; Germiniani Francisco Manoel BRANCO; Salmo RASKIN; De Souza Crippa Ana CHRYSTINA et al. 2018. Abnormal findings in polysomnographic recordings of patients with spinocerebellar ataxia type 2 (sca2). The cerebellum. set, 1-7.
  28. Life Sciences Neurology
    Abagge Kerstin TANIGUCHI; Haupenthal FELIPE; Felber Gabriella YAMASHITA; Salmo RASKIN. 2018. Pibids syndrome in two brazilian siblings. Bmj case reports. 11, e223744-.
  29. Life Sciences Genetics
    Schossig ANNA; Bloch Zupan AGNÈS; Lussi ADRIAN; Wolf Nicole I; Salmo RASKIN et al. 2017. Slc13a5</i> is the second gene associated with kohlschütter-tönz syndrome. Journal of medical genetics (print). 54, jmedgenet-2016-62.
  30. Health Sciences Genetics (clinical)
    Ribas D I R; Escaliante C H; Bortoli C G; De Oliveira C R F; Mikami L R et al. 2017. P.phe508del</i> ; p.gly542x</i> ; p.arg1162x</i> ; p.asn1303lys</i> ; and p.lys683serfsx38</i> mutations in cf newborn screening of brazilian children. Clinical genetics. 1, 1-2.
  31. Life Sciences Genetics
    De Souza D A S; Faucz F R; De Alexandre R B; Santana M A; De Souza E L S et al. 2017. Cystic fibrosis in afro-brazilians: xk haplotypes analysis supports the european origin of p.f508del mutation. Genetica ('s-gravenhage). 1, 1-10.
  32. Life Sciences Neurology
    Moro ADRIANA; Munhoz Renato P; Moscovich MARIANA; Arruda Walter O; Salmo RASKIN et al. 2017. Nonmotor symptoms in patients with spinocerebellar ataxia type 10. Cerebellum. 00, 00-0.
  33. Life Sciences Genetics
    Liberalesso Paulo Breno NORONHA; Cordeiro Mara L; Karuta Simone Carreiro VIEIRA; Koladicz Karyn Regina JORDÃO; Nitsche ANDERSON et al. 2017. Phenotypic and genotypic aspects of townes-brock syndrome: case report of patient in southern brazil with a new sall1 hotspot region nonsense mutation. Bmc medical genetics. 18, 125-.
  34. Health Sciences Psychiatry and Mental Health
    Grabowski Paulo André PERA; Bello Alexandre FERREIRA; Rodrigues Diogo LIMA; Forbeci Murilo JOSÉ; Motter VINICIUS et al. 2017. Deletion involving the 7q31-32 band at the cadps2 gene locus in a patient with autism spectrum disorder and recurrent psychotic syndrome triggered by stress. Case reports in psychiatry (print). 2017, 1-4.
  35. Health Sciences Medicine (miscellaneous)
    De Souza D A S; Faucz F R; Pereira Ferrari L; Sotomaior V S; Salmo RASKIN. 2017. Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling. Andrology. -, ---.
  36. Health Sciences Neurology (clinical)
    Goemans NATHALIE; Mercuri EUGENIO; Belousova ELENA; Komaki HIROFUMI; Dubrovsky ALBERTO et al. 2017. A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide; drisapersen; in duchenne muscular dystrophy. Neuromuscular disorders. -, ---.
  37. Health Sciences Psychiatry and Mental Health
    Teive Hélio Afonso GHIZONI; Camargo Carlos Henrique F; Sato Mario TERUO; Shiokawa NAOYE; Boguszewski Cesar L et al. 2017. Different cerebellar ataxia phenotypes associated with mutations of the pnpla6 gene in brazilian patients with recessive ataxias. Cerebellum. -, ---.
  38. Health Sciences Psychiatry and Mental Health
    Santoro EDUARDO; Pandolfo HENRIQUE; Rosenfeld JILL; Salmo RASKIN. 2016. A 10.43mb duplication of chromosome region 5q31.2-q32 associated with a general delay in psychomotor development. Meta gene. 1, 1-1.
  39. Life Sciences Neurology
    Teive Hélio A G; Moro ADRIANA; Arruda Walter O; Salmo RASKIN; Teive Gladys M G et al. 2016. Itajaí; santa catarina ? azorean ancestry and spinocerebellar ataxia type 3. Arquivos de neuro-psiquiatria (online). 74, 858-860.
  40. Life Sciences Genetics
    Redin CLAIRE; Brand HARRISON; Collins Ryan L; Kammin TAMMY; Mitchell ELYSE et al. 2016. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nature genetics. 49, 36-45.
  41. Life Sciences Genetics
    Teive Hélio Afonso GHIZONI; Moro ADRIANA; Moscovich MARIANA; Arruda Walter OLESKHO; Munhoz Renato PUPPI et al. 2015. Spinocerebellar ataxia type 10 in the south of brazil: the amerindian-belgian connection. Arquivos de neuro-psiquiatria (online). 73, 725-727.
  42. Health Sciences Neurology (clinical)
    Teive Hélio A G; Moro ADRIANA; Moscovich MARIANA; Arruda Walter O; Munhoz Renato P et al. 2015. Ataxia-telangiectasia - a historical review and a proposal for a new designation: atm syndrome. Journal of the neurological sciences. 355, 3-6.
  43. Life Sciences Neurology
    Pedroso José LUIZ; Abrahao AGESSANDRO; Ishikawa KINYA; Salmo RASKIN; De Souza Paulo Victor SGOBBI et al. 2015. When should we test patients with familial ataxias for sca31? a misdiagnosed condition outside japan?. Journal of the neurological sciences. n/a, n/a-n/a.
  44. Life Sciences Genetics
    Nevado JULIÁN; Rosenfeld Jill A; Mena ROCÍO; Palomares Bralo MARÍA; Vallespín ELENA et al. 2015. Pias4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome. European journal of human genetics. n/a, n/a-n/a.
  45. Health Sciences Radiology, Nuclear Medicine and Imaging
    Vieira Karuta Simone CARREIRO; Salmo RASKIN; De Carvalho Neto ARNOLFO; Gasparetto Emerson LEANDRO; Doring THOMAS et al. 2015. Diffusion tensor imaging and tract-based spatial statistics analysis in friedreich?s ataxia patients. Parkinsonism & related disorders. n/a, n/a-n/a.
  46. Life Sciences Neuroscience (miscellaneous)
    Barsottini O G P; Martins P D M; Chien H F; Salmo RASKIN; Nunes R H et al. 2015. Familial striatal degeneration: new mutation and neuroimaging clues. Neurology (cleveland; ohio). 85, 1816-1818.
  47. Life Sciences Neuroscience (miscellaneous)
    Dos Santos Lúcia H COUTINHO; De Carvalho Neto ARNOLFO; Salmo RASKIN; Bruck ISAC. 2015. Juvenile huntington disease pediatric neurologist: look at the neuroimage. Pediatric neurology. 4, 231-234.
  48. Health Sciences Genetics (clinical)
    Rojnueangnit KITIWAN; Xie JING; Gomes ALICIA; Sharp ANGELA; Callens TOM et al. 2015. High incidence of noonan syndrome features including short stature and pulmonic stenosis in patients carrying nf1</i> missense mutations affecting p.arg1809: genotype-phenotype correlation. Human mutation. 36, n/a-n/a.
  49. Life Sciences Genetics
    Bourassa Cynthia V; Salmo RASKIN; Serafini SÉRGIO; Teive Hélio A G; Dion Patrick A et al. 2015. A new elovl4</i> mutation in a case of spinocerebellar ataxia with erythrokeratodermia. Cadastro do periódico jama neurology. 72, 942-943.
  50. Life Sciences Neuroscience (miscellaneous)
    Silva Isabela M W; Rosenfeld JILL; Antoniuk Sergio A; Salmo RASKIN; Sotomaior Vanessa S. 2014. A 1.5mb terminal deletion of 12p associated with autism spectrum disorder. Gene (amsterdam). 1, 1-4.
  51. Life Sciences Genetics
    Lorenzoni Paulo JOSÉ; Cardoso ELAINE; Crippa Ana C S; Lourenço Charles MARQUES; Souza Fernanda Timm SEABRA et al. 2014. Niemann-pick disease type c: a case series of brazilian patients. Arquivos de neuro-psiquiatria (impresso). 72, 214-218.
  52. Health Sciences Neurology (clinical)
    Camargo Carlos Henrique F; Camargos Sarah TEIXEIRA; Becker NILSON; Munhoz Renato PUPPI; Salmo RASKIN et al. 2014. Cervical dystonia: about familial and sporadic cases in 88 patients. Arquivos de neuro-psiquiatria (impresso). 72, 107-113.
  53. Life Sciences Genetics
    Moro ADRIANA; Munhoz Renato P; Arruda Walter O; Salmo RASKIN; Moscovich MARIANA et al. 2014. Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients. Arquivos de neuro-psiquiatria (impresso). 72, 659-662.
  54. Health Sciences Genetics (clinical)
    Camargo Carlos Henrique F; Camargos Sarah TEIXEIRA; Salmo RASKIN; Cardoso Francisco Eduardo C; Teive Hélio Afonso G. 2014. Genetic evaluation for tor1-a (dyt1) in brazilian patients with dystonia. Arquivos de neuro-psiquiatria (impresso). 72, 753-756.
  55. Life Sciences Neurology
    Moro ADRIANA; Munhoz Renato P; Moscovich MARIANA; Arruda Walter O; Salmo RASKIN et al. 2014. Movement disorders in spinocerebellar ataxias in a cohort of brazilian patients. European neurology. 72, 360-362.
  56. Life Sciences Genetics
    Carlos Henrique F CAMARGO; Sarah Teixeira CAMARGOS; Salmo RASKIN; Francisco Eduardo C CARDOSO; He Lio Afonso G TEIVE. 2014. Dyt6 in brazil: genetic assessment and clinical characteristics of patients. Tremor and other hyperkinetic movements. 15, 226-.
  57. Life Sciences Genetics
    Moro ADRIANA; Martinez Alberto R M; Karuta Simone C V; Munhoz Renato P; Moscovich MARIANA et al. 2014. -pseudo-dominant? inheritance in friedreich's ataxia: clinical and genetic study of a brazilian family. Movement disorders clinical practice. 1, 361-363.
  58. Life Sciences Genetics
    França MC; Dogini DB; D Abreu A; Teive HAG; Renato Puppi MUNHOZ et al. 2013. Spg4-related hereditary spastic paraplegia: frequency and mutation spectrum in brazil. Clinical genetics. 1, n/a-n/a.
  59. Health Sciences Neurology (clinical)
    Moro ADRIANA; Munhoz Renato PUPPI; Arruda Walter OLESCHKO; Salmo RASKIN; Teive Helio Afonso GHIZONI. 2013. Clinical relevance of 'bulging eyes' for the differential diagnosis of spinocerebellar ataxias. Arquivos de neuro-psiquiatria (impresso). 71, 428-430.
  60. Life Sciences Neurology
    Ermel Erica LEITAO; Carneiro Lauriane CAROLINE; Souza Carolina Fischinger Moura DE; Crippa Ana Chrystina De SOUZA; Sanseverino Maria Teresa VIEIRA et al. 2013. Epileptic encephalopathy and atypical rett syndrome with mutations in cdkl5: clinical and molecular characterization of two brazilian patients. Arquivos de neuro-psiquiatria (impresso). 71, 414-415.
  61. Health Sciences Neurology (clinical)
    Honório Jonathan CELLI; Bruns Rafael FREDERICO; Gründtner Luciana FERNANDES; Salmo RASKIN; Ferrari Lilian PEREIRA et al. 2013. Diastrophic dysplasia: prenatal diagnosis and review of the literature. São paulo medical journal (impresso). 1, 12-13.
  62. Health Sciences Neurology (clinical)
    Mcfarland Karen N; Liu JILIN; Landrian IVETTE; Zeng DESMOND; Salmo RASKIN et al. 2013. Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures. Neurogenetics (oxford. print). 15, 59-64.
  63. Health Sciences Neurology (clinical)
    Luiz Pedroso JOSÉ; Salmo RASKIN; Graziani Povoas Barsottini ORLANDO; Oliveira Acary S B. 2013. Adult onset alexander disease presenting with progressive spastic paraplegia. Parkinsonism & related disorders. 20, 241-242.
  64. Life Sciences Genetics
    Favaro Francine P; Alvizi LUCAS; Zechi Ceide Roseli M; Bertola DEBORA; Felix Temis M et al. 2013. A noncoding expansion in eif4a3 causes richieri-costa-pereira syndrome; a craniofacial disorder associated with limb defects. American journal of human genetics. 15, 59-64.
  65. Life Sciences Neuroscience (miscellaneous)
    Da Silva Luciana Rodrigues JACY; Colovati Mileny Esbravatti STEPHANO; Coprerski BRUNO; De Andrade Carlos Eugênio FERNANDEZ; Zanoteli EDMAR et al. 2013. Spinal muscular atrophy due to a -de novo- 1.3mb deletion: implication for genetic counseling. Neuromuscular disorders. 23, 388-390.
  66. Life Sciences Neurology
    Salmo RASKIN; Souza MARCELA; Medeiros Mariana C; Manfron MAYRA; Chong E Silva Debora C. 2013. Richieri-costa and pereira syndrome: severe phenotype. American journal of medical genetics. part a. 161A, n/a-n/a.
  67. Life Sciences Neurology
    Zechi Ceide Roseli MARIA; Moura Priscila PADILHA; Salmo RASKIN; Richieri Costa ANTONIO; Guion Almeida Maria LEINE. 2013. A compound heterozygote slc26a2 mutation resulting in robin sequence; mild limbs shortness; accelerated carpal ossification; and multiple epiphysial dysplasia in two brazilian sisters. a new intermediate phenotype between diastrophic dysplasia and recessi. American journal of medical genetics. part a. 161, 2088-2094.
  68. Life Sciences Genetics
    Bem Ricardo Schmitt DE; Salmo RASKIN; Muzzillo Dominique ARAUJO; Deguti Marta MITIKO; Cancado Eduardo Luiz RACHID et al. 2013. Wilson's disease in southern brazil: genotype-phenotype correlation and description of two novel mutations in atp7b gene. Arquivos de neuro-psiquiatria (impresso). 71, 503-507.
  69. Life Sciences Neurology
    Moro ADRIANA; Munhoz Renato P; Salmo RASKIN; Bezerra Torben C; Moscovich MARIANA et al. 2013. Acute onset of cerebellar ataxia in a spinocerebellar ataxia type 10 patient after use of steroids. Arquivos de neuro-psiquiatria (impresso). 71, 66-66.
  70. Life Sciences Neurology
    Mcfarland Karen N; Liu JILIN; Landrian IVETTE; Gao RUI; Sarkar Partha S et al. 2013. Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability. European journal of human genetics. 1, 1-2.
  71. Health Sciences Otorhinolaryngology
    Souza JOSIANE; Salmo RASKIN. 2013. Clinical and epidemiological study of orofacial clefts. Jornal de pediatria (impresso). 89, 137-144.
  72. Life Sciences Genetics
    Tucci ARIANNA; Kara ELEANNA; Schossig ANNA; Wolf Nicole I; Plagnol VINCENT et al. 2013. Kohlschütter-tönz syndrome: mutations in rogdi</i> and evidence of genetic heterogeneity. Human mutation. 34, 296-300.
  73. Health Sciences Neurology (clinical)
    Fonseca Eduardo Borges DA; Salmo RASKIN; Zugaib MARCELO. 2013. Folic acid for the prevention of neural tube defects. Revista brasileira de ginecologia e obstetrícia (impresso). 35, 287-289.
  74. Health Sciences Genetics (clinical)
    Teive HA; Renato Puppi MUNHOZ; Arruda WO; Lopes Cendes I; Salmo RASKIN et al. 2012. Spinocerebellar ataxias - genotype-phenotype correlations in 104 brazilian families. Clinics. 67, 443-449.
  75. Health Sciences Neurology (clinical)
    Rezende Sheyla Ariêh De SOUZA; Fernandes MAURÍCIO; Munhoz Renato PUPPI; Salmo RASKIN; Schelp Arthur OSCAR et al. 2012. Cerebellar ataxia as the first manifestation of alexander's disease. Arquivos de neuro-psiquiatria (impresso). 70, 309-310.
  76. Life Sciences Neurology
    Moscowich W; Munhoz R P; Teive Hélio A G; Salmo RASKIN. 2012. Olfactory impairment in familial ataxias. Journal of neurology; neurosurgery and psychiatry. 83, 970-974.
  77. Life Sciences Neurology
    Gardiner A R; Bhatia K P; Stamelou M; Dale R C; Kurian M A et al. 2012. Prrt2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology (online). 79, 2115-2121.
  78. Life Sciences Genetics
    Girirajan SANTHOSH; Rosenfeld Jill A; Coe Bradley P; Parikh SUMIT; Friedman NEIL et al. 2012. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. New england journal of medicine (online). 367, 1321-1331.
  79. Life Sciences Genetics
    Teive Hélio A G; Munhoz Renato P; Arruda Walter O; Salmo RASKIN; Werneck Lineu CÉSAR et al. 2011. Spinocerebellar ataxia type 10 - a review. Parkinsonism & related disorders. 17, 655-661.
  80. Life Sciences Neurology
    Dias Francisco A; Munhoz Renato P; Salmo RASKIN; Werneck Lineu CÉSAR; Teive Hélio A G. 2011. Tremor in x-linked recessive spinal and bulbar muscular atrophy (kennedy's disease). Clinics. 66, 955-957.
  81. Health Sciences Pediatrics, Perinatology and Child Health
    Teive H A G; Arruda W O; Salmo RASKIN; Munhoz R P; Zavala J A et al. 2011. Symptom onset of spinocerebellar ataxia type 10 in pregnancy and puerperium. Journal of clinical neuroscience. 18, 437-438.
  82. Life Sciences Genetics
    Filho Aguinaldo BONALUMI; Souza JOSIANE; Faucz Fábio RUEDA; Sotomaior Vanessa SANTOS; Dupont BARBARA et al. 2011. Somatic/gonadal mosaicism in a syndromic form of ectrodactyly; including eye abnormalities; documented through array-based comparative genomic hybridization. American journal of medical genetics. part a. n/a-n/a.
  83. Life Sciences Genetics
    Rosenfeld Jill A; Drautz Joanne MILISA; Clericuzio Carol L; Cushing TOM; Salmo RASKIN et al. 2011. Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes. American journal of medical genetics. part a. 1, n/a-n/a.
  84. Life Sciences Genetics
    Faucz Fabio RUEDA; Souza JOSIANE; Filho Aguinaldo BONALUMI; Sotomaior Vanessa SANTOS; Frantz EGON et al. 2011. Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: a locus associated with asperger syndrome?. American journal of medical genetics. part a. 1, n/a-n/a.
  85. Health Sciences Medicine (miscellaneous)
    Doetzer Andrea DUARTE; Sotomaior Vanessa SANTOS; Bubna Marcos HENRIQUE; Salmo RASKIN. 2011. What can be done when asymptomatic patients discover they have brugada syndrome? a case report of brugada syndrome. International journal of cardiology (print). 150, e96-e97.
  86. Life Sciences Genetics
    Souza JOSIANE; Faucz FÁBIO; Sotomaior VANESSA; Bonalumi Filho AGUINALDO; Rosenfeld JILL et al. 2011. Chromosome 19p13.3 deletion in a child with peutz-jeghers syndrome; congenital heart defect; high myopia; learning difficulties and dysmorphic features: clinical and molecular characterization of a new contiguous gene syndrome. Genetics and molecular biology (impresso). 34, 557-561.
  87. Health Sciences Neurology (clinical)
    White Misti C; Gao RUI; Xu WEIDONG; Mandal Santi M; Lim Jung G et al. 2010. Inactivation of hnrnp k by expanded intronic auucu repeat induces apoptosis via translocation of pkcδ to mitochondria in spinocerebellar ataxia 10. Plos genetics (online). 6, e1000984-.
  88. Life Sciences Genetics
    Allanson Judith E; Bohring AXEL; Dörr Helmuth GUENTHER; Dufke ANDREAS; Gillessen Kaesbach GABRIELLE et al. 2010. The face of noonan syndrome: does phenotype predict genotype. American journal of medical genetics. part a. n/a-n/a.
  89. Life Sciences Neurology
    Teive Hélio A G; Munhoz Renato P; Salmo RASKIN; Arruda Walter O; De Paola LUCIANO et al. 2010. Spinocerebellar ataxia type 10: frequency of epilepsy in a large sample of brazilian patients. Movement disorders. n/a-n/a.
  90. Life Sciences Neuroscience (miscellaneous)
    Silveira Moriyama LAURA; Munhoz Renato PUPI; De J Carvalho MARGARETE; Salmo RASKIN; Rogaeva EKATERINA et al. 2010. Olfactory heterogeneity in lrrk2 related parkinsonism. Movement disorders. n/a-n/a.
  91. Social Sciences & Humanities Language and Linguistics
    Nascimento Gisele Moro DO; Nunes Caroline Sampaio ALVES; Menegotto Paula FATUCH; Salmo RASKIN; Almeida Nádia DE. 2010. Cútis laxa: relato de caso. Anais brasileiros de dermatologia (impresso). 85, 684-686.
  92. Health Sciences Medicine (miscellaneous)
    Boguszewski Cesar LUIZ; Bianchet Leila CAROLINE; Salmo RASKIN; Nomura Luiz M; Borba Luis ALENCAR et al. 2010. Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1. Arquivos brasileiros de endocrinologia e metabologia (impresso). 54, 705-710.
  93. Health Sciences Neurology (clinical)
    Munhoz Renato P; Teive Helio A; Francisco Alexandre N; Salmo RASKIN; Rogaeva EKATERINA. 2009. Unilateral pallidotomy in a patient with parkinsonism and g2019s lrrk2</i> mutation. Movement disorders. 24, 791-792.
  94. Life Sciences Genetics
    Zechi Ceide Roseli MARIA; Ribeiro Lucilene ARILHO; Salmo RASKIN; Bertolacini Claudia Danielli PEREIRA; Guion Almeida Maria LEINE et al. 2009. Holoprosencephaly; ectrodactyly; and bilateral cleft of lip and palate: exclusion of shh</i> ; tgif</i> ; six3</i> ; gli2</i> ; tp73l</i> ; and dhcr7</i> as candidate genes. American journal of medical genetics. part a. 149A, 1277-1279.
  95. Life Sciences Parasitology
    Munhoz Renato PUPPI; Kowacs Pedro ANDRÉ; Sória Marília GRANDO; Ducci Renata Dal PRÁ; Salmo RASKIN et al. 2009. Catamenial and oral contraceptive-induced exacerbation of chorea in chorea-acanthocytosis: case report. Movement disorders. NA-NA.
  96. Life Sciences Neurology
    Munhoz R; Teive H; Salmo RASKIN; Werneck L. 2009. Cta/ctg expansions at the sca 8 locus in multiple system atrophy. Clinical neurology and neurosurgery (dutch-flemish ed.). 111, 208-210.
  97. Life Sciences Genetics
    Faucz Fabio R; Souza Denise A S; Olandoski MARCIA; Salmo RASKIN. 2009. Cftr allelic heterogeneity in brazil: historical and geographical perspectives and implications for screening and counseling for cystic fibrosis in this country. Journal of human genetics (print). 55, 71-76.
  98. Life Sciences Neurology
    Munhoz Renato P; Wakutani YOSUKE; Marras CONNIE; Teive Helio A; Salmo RASKIN et al. 2008. The g2019slrrk2 mutation in brazilian patients with parkinson's disease: phenotype in monozygotic twins. Movement disorders. 23, 290-294.
  99. Health Sciences Pediatrics, Perinatology and Child Health
    Santos M L F; Salmo RASKIN; Telles D S; Löhr Junior A; Liberalesso P B N et al. 2008. Treatment of a child diagnosed with niemann-pick disease type c with miglustat: a case report in brazil. Journal of inherited metabolic disease. 31, 357-361.
  100. Health Sciences Genetics (clinical)
    Salmo RASKIN; Pereiraferrari L; Caldeirareis F; Abreu F; Marostica P et al. 2008. Incidence of cystic fibrosis in five different states of brazil as determined by screening of p.f508del; mutation at the cftr gene in newborns and patients. Journal of cystic fibrosis. 7, 15-22.
  101. Health Sciences Medicine (miscellaneous)
    Teive Hélio A G; Munhoz Renato P; Muzzio Juliano A; Scola Rosana H; Kay Cláudia K et al. 2008. Cerebellar ataxia; myoclonus; cervical lipomas; and merrf syndrome. case report. Movement disorders. 23, 1191-1192.
  102. Life Sciences Genetics
    Teive Hélio A G; Munhoz Renato PUPPI; Salmo RASKIN; Werneck Lineu CÉSAR. 2008. Spinocerebellar ataxia type 6 in brazil. Arquivos de neuro-psiquiatria. 66, 691-.
  103. Life Sciences Neurology
    Rodrigues Guilherme G RICCIOPPO; Walker Ruth H; Brice ALEXIS; Cazeneuve CÉCILE; Russaouen ODILE et al. 2008. Huntington's disease-like 2 in brazil-report of 4 patients. Movement disorders. 23, 2244-2247.
  104. Life Sciences Genetics
    Salmo RASKIN; Petzl Erler M L; Phillips J A; Pereira Ferrari L; Probst C M et al. 2007. Cystic fibrosis gene variability in two southern brazilian amerindian populations: analysis of the -f508 mutation and the km19 and xv2c haplotypes. Human biology. 79, 79-91.
  105. Health Sciences Genetics (clinical)
    Stachon ANDREA; Assumpção Jr Francisco BAPTISTA; Salmo RASKIN. 2007. Rett syndrome: clinical and molecular characterization of two brazilian patients. Arquivos de neuro-psiquiatria (impresso). 65, 36-40.
  106. Health Sciences Pediatrics, Perinatology and Child Health
    Salmo RASKIN; Ashizawa T; Teive H. 2007. Reduced penetrance in a brazilian family with spinocerebellar ataxia type 10. Archives of neurology (chicago). 64, 591-594.
  107. Life Sciences Neuroscience (miscellaneous)
    Becker NILSON; Munhoz Renato P; Salmo RASKIN; Werneck Lineu CÉSAR; Teive Hélio A G. 2007. Non-choreic movement disorders as initial manifestations of huntington's disease. Arquivos de neuro-psiquiatria (impresso). 65, 402-405.
  108. Health Sciences Genetics (clinical)
    Faucz FR; Gimenez J; Ramos MD; Lilian Pereira FERRARI; X ESTIVILL et al. 2007. Cystic fibrosis in a southern brazilian population: characteristics of 90% of the alleles. Clinical genetics. 72, 218-223.
  109. Life Sciences Genetics
    Teive Hélio A G; Arruda Walter O; Salmo RASKIN; Ashizawa TETSUO; Werneck Lineu CÉSAR. 2007. The history of spinocerebellar ataxia type 10 in brazil: travels of a gene. Arquivos de neuro-psiquiatria (impresso). 65, 965-968.
  110. Life Sciences Genetics
    Teive H; Salmo RASKIN; Munhoz RP; Kawarai T; Sato C et al. 2006. Clinical and genetic study of a brazilian family with spastic paraplegia (spg6 locus). Movement disorders. 21, (2) 279-281.
  111. Life Sciences Neuroscience (miscellaneous)
    Munhoz RP; Salmo RASKIN; Teive H; Troiano A R. 2006. Atypical parkinsonism and sca8. Parkinsonism & related disorders. 12, 191-192.
  112. Life Sciences Aging
    Salmo RASKIN. 2006. O papel da genética no envelhecimento: implicações na qualidade de vida do idoso. Revista médica do paraná. 63, 5-9.
  113. Social Sciences & Humanities Psychology (miscellaneous)
    Paula GOMIDE; D MILLAN; M BOARON; Salmo RASKIN. 2006. Práticas educativas parentais e gestação na adolescência: comparando as experiências da gestante adolescente e da adolescente sem experiência de gestação. Revista médica do paraná. 63, 32-36.
  114. Life Sciences Genetics
    Martin ZENKER; Katarina LEHMANN; Schulz A L; Helmut BARTH; Dagmar HANSMANN et al. 2006. Expansion of the genotypic and phenotypic spectrum in patients with kras germline mutations. Journal of medical genetics (print). 44, 131-135.
  115. Health Sciences Pediatrics, Perinatology and Child Health
    Carrera RC; Yamasaki R; Bragança W; Salmo RASKIN. 2006. Etiologic investigations on male infertility before intracytoplasmatic sperm injection (icsi). Genetic counseling. 17, 385-389.
  116. Life Sciences Genetics
    Trentin Ana P; Scola Rosana H; Teive Hélio A G; Salmo RASKIN; Germiniani Francisco M B et al. 2005. Kennedy's disease phenotype with positive genetic study for kugelberg-welander's disease: case report. Arquivos de neuro-psiquiatria (impresso). 63, 330-331.
  117. Life Sciences Genetics
    Kurotaki NAOHIRO; Shen Joseph J; Touyama MAYUMI; Kondoh TATSURO; Visser REMCO et al. 2005. Phenotypic consequences of genetic variation at hemizygous alleles: sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (fxii) deficiency. Genetics in medicine. 7, 479-483.
  118. Life Sciences Genetics
    Polityko A; Starke H; Rumyantseva N; Claussen U; Liehr T et al. 2005. Three cases with rare interstitial rearrangements of chromosome 1 characterized by multicolor banding. Cytogenetic and genome research. 111, (2) 171-174.
  119. Social Sciences & Humanities Psychology (miscellaneous)
    Mariane BONATO; Salmo RASKIN. 2005. O impacto psicológico do diagnóstico positivo do teste do pezinho na relação mãe-bebê. Estudos de biologia. 27, 33-37.
  120. Health Sciences Medicine (miscellaneous)
    G COUTINHO; M MITUI; C CAMPBELL; B COSTACARVALHO; R GATTI et al. 2004. Five haplotypes account for fifty-five percent of atm mutations in brazilian patients with ataxia telangiectasia: seven new mutations. American journal of medical genetics (print) (cessou em 2002. foi desdobrado em três: issn 1552-4825; 1552-4841 e 1552-4868). 126A, 33-40.
  121. Life Sciences Genetics
    Helio Ghizoni TEIVE; Roa A; Salmo RASKIN. 2004. Clinical phenotype of brazilian families with spinocerebelar ataxia 10. Neurology (cleveland; ohio). 63, (8) 1509-1512.
  122. Health Sciences Pediatrics, Perinatology and Child Health
    Kowacks PA; Lineu C WERNECK; H FAMELI; Mc LANGE; Salmo RASKIN. 2004. Report of cluster headache in a pair of monozygous twins. The journal of headache and pain (testo stampato). 5, 140-143.
  123. Life Sciences Neuroscience (miscellaneous)
    Lange MC; V H ZETOLA; Hélio A TEIVE; R H SCOLA; Trentin AP et al. 2004. Cerebrotendinous xanthomatosis: report of two brazilian brothers. Arquivos de neuro-psiquiatria (impresso). 62, (4) 1085-1089.
  124. Health Sciences Medicine (miscellaneous)
    Hélio A TEIVE; Pereira E; Zavala JA; Lange MC; Luciano De PAOLA et al. 2004. Generalized dystonia and striatal calcifications with lipoid proteinosis. Neurology (cleveland; ohio). 14, (63) 2168-2169.
  125. Life Sciences Genetics
    Teive H; Troiano A R; Salmo RASKIN; Werneck L. 2004. Lebers hereditary optic neuropathy case report and literature review. São paulo medical journal. 122, (6) 276-279.
  126. Health Sciences Medicine (miscellaneous)
    Isabelle Rego BARROS; Salmo RASKIN. 2004. Epidermólise bolhosa distrófica: relato de caso brasileiro. Estudos de biologia. 26, 25-30.
  127. Health Sciences Genetics (clinical)
    Henrique PRETI; Salmo RASKIN. 2004. Freqüência fenotípica do vírus da hepatite c e de seus subtipos em 58 casos constatados no paraná. Estudos de biologia. 26, 31-40.
  128. Life Sciences Genetics
    Sun GUANGYUN; Mcgarvey Stephen T; Bayoumi RIAD; Mulligan Connie J; Barrantes RAMIRO et al. 2003. Global genetic variation at nine short tandem repeat loci and implications on forensic genetics. European journal of human genetics. 11, 39-49.
  129. Life Sciences Neurology
    Magali PERIQUET; Morwena LATOUCHE; Ebba LOHMANN; Giuseppe De MICHELE; Sylvain RICARD et al. 2003. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain. 127, 1271-.
  130. Life Sciences Genetics
    Hh LEE; S F SCHANG; Y LLEE; Salmo RASKIN. 2003. Deletion of the c4-cyp21 repeat module leading to the formation of a chieric cyp21p/cyp21 gene in a 9.3-kb fragment as a cause of steroid 21-hidroxylase deficiency. Clinical chemistry (baltimore; md.). 49, (2) 319-322.
  131. Life Sciences Genetics
    E LOHMAN; M PERIQUET; V BONIFFATTI; Nw WOOD; Giuseppe De MICHELE et al. 2003. How much phenotypic variation can be attributed toparkin genotype?. Annals of neurology. 54, (2) 176-185.
  132. Life Sciences Neurology
    N RAWAL; M PERIQUET; E LOHMANN; Cb LUCKING; Helio TEIVE et al. 2003. New parkin mutations and atypical phenotypes in families with autossomal recessive parkinsonism. Neurology (cleveland; ohio). 60, (8) 1378-1381.
  133. Life Sciences Genetics
    E M Goloni BERTOLLO; A R ROSSIT; J B Salomão JUNIOR; A C Fett CONTE; Salmo RASKIN. 2003. Cftr molecular analysis reveals infrequent allele frequencies in são paulo state; brazil. Human biology. 75, (3) 393-398.
  134. Life Sciences Pharmacology
    Salmo RASKIN; L PEREIRA; F REIS; N ROSARIO; N LUDWIG et al. 2003. High allelic heterogeneity between afro-brazilians and euro-brazilians impacts cystic fibrosis genetic testing. Genetic testing (cessou em 2008. cont. issn 1945-0265 genetic testing and molecular biomarkers). 7, (3) 213-218.
  135. Health Sciences Pediatrics, Perinatology and Child Health
    L CLAES; B CELEUMANS; D AUDENAERT; K SMETS; A LOFGREN et al. 2003. De novoscn1a mutations are a major cause of severe myoclonic epilepsy of infancy. Human mutation. 21, (6) 615-621.
  136. Life Sciences Genetics
    Matsumoto N; L KAMIMURA; Y ENDO; J KAMIMURA; N KUROTAKI et al. 2003. Identification of eight novel nsd1 mutations in sotos syndrome. Journal of medical genetics. 40, (11) 126-127.
  137. Health Sciences Medicine (miscellaneous)
    Luiz Vicente Ferreira Da Silva FILHO; Maria Helena De Carvalho Ferreira BUSSAMRA; Cleyde Miriam Aversa NAKAIE; Fabiola Villac ADDE; Joaquim Carlos RODRIGUES et al. 2003. Cystic fibrosis with normal sweat chloride concentration ? case report. Revista do hospital das clínicas (fmusp). 58, 260-262.
  138. Social Sciences & Humanities Psychology (miscellaneous)
    Camacho S; Salmo RASKIN. 2003. Apresentação de caso clínico - síndrome de seckel. Endocrinologia & diabetes clínica e experimental. 4, 180-182.
  139. Life Sciences Neuroscience (miscellaneous)
    Nina RAWAL; M PERIQUET; Alexandra DURR; Giuseppe De MICHELE; V BONIFFATTI et al. 2002. Exclusion of the nurr1 gene in autosomal recessive parkinson's disease. Journal of neurology (print). 249, (8) 1127-1129.
  140. Life Sciences Genetics
    Salmo RASKIN. 2002. O mapeamento genético de pit-1 em humanos: o gene dos genes. Endocrinologia & diabetes clínica e experimental. 2, 47-48.
  141. Health Sciences Neurology (clinical)
    R H SCOLA; L C WERNECK; F M IWAMOTO; L C RIBAS; Salmo RASKIN. 2001. Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report. Arquivos de neuro-psiquiatria (impresso). 59, (2-A) 259-262.
  142. Life Sciences Neurology
    H A TEIVE; Salmo RASKIN; F M IWAMOTO; M H POLYMEROPOULOS; Et AL. 2001. The g209a mutation in the alpha-synuclein gene in brazilian families with parkinson's disease. Arquivos de neuro-psiquiatria (impresso). 59, 722-724.
  143. Life Sciences Genetics
    Kwok JB; Salmo RASKIN; Morgan G Antoniuk Sa Bruk I Schofiel PR. 2001. Mutations in the glycine receptor alpha 1 subunit (glra1) gene in hereditary hyperklepxia pedigrees: evidence for non penetrance of mutation y279c. Journal of medical genetics. Estados Unidos. 38, (6) 17-17.
  144. Health Sciences Neurology (clinical)
    Salmo RASKIN; N ALLAN; H A TEIVE; F CARDOSOS; M S HADAD et al. 2000. Huntington disease: dna analysis in brazilian population. Arquivos de neuro-psiquiatria (impresso). 58, 977-985.
  145. Life Sciences Genetics
    Salmo RASKIN; Phillips J A III; Kaplan G; Mcclure M; Vnencak Jones C et al. 1999. Geographic heterogeneity of four common worldwide cystic fibrosis non-f508 mutations in brazil. Human biology. Estados Unidos. -.
  146. Life Sciences Genetics
    G LEVY; M E NOBRE; V T CIMINI; Salmo RASKIN; E EGELHARDT. 1999. Juvenile huntington's disease confirmed by genetic examination in twins. Arquivos de neuro-psiquiatria (impresso). 57, 867-869.
  147. Life Sciences Genetics
    O Nneil P; Salmo RASKIN; L TROMBLEY; M GUNDEL; Y HUNTER et al. 1999. Identification of a new lesch-nyhan syndrome mutation (hprt brasil) and analysis of potentially heterozygous females. Arquivos de neuro-psiquiatria (impresso). 57, (4) 907-911.
  148. Life Sciences Neuroscience (miscellaneous)
    Almeida Db Pedroso Aa Ramina R Arruda WO; Walter ARRUDA; Ricardo RAMINA; A PEDROZO; Salmo RASKIN. 1999. Migrânea com afasia: relato de uma família. Arquivos de neuro-psiquiatria (impresso). 57, (1) 111-113.
  149. Life Sciences Neuroscience (miscellaneous)
    L NORONHA; G SAMPAIO; M R NETTO; J S Reis FILHO; L N FAORO et al. 1999. Neurocutaneous melanosis. Jornal de pediatria. 75, (4) 277-280.
  150. Life Sciences Genetics
    Lilian Pereira FERRARI; Salmo RASKIN; Lodércio CULPI. 1999. Cystic fibrosis mutations r1162x and 2183aa<font face='symbol'>&reg-</font>g in two southern brasilian states. Genetics and molecular biology (impresso). 22, 291-294.
  151. Life Sciences Genetics
    Burger M; Salmo RASKIN; Brockelt S; Amthor B; Geiss H et al. 1998. Dna fingerprinting of mycobacterium tuberculosis complex culture isolates collected in brazil and spotted onto filter paper. Journal of clinical microbiology. 36, (2) 573-576.
  152. Health Sciences Medicine (miscellaneous)
    Marostica P; Salmo RASKIN; Abreu F. 1998. Analysis of the <font face='symbol'>d</font>f508 mutation in a brazilian cystic fibrosis population: comparison of pulmonary status of homozygotes with other patients. Brazilian journal of medical and biological research. 31, (4) 529-532.
  153. Life Sciences Genetics
    Martineli A M R; Braga M; De Lacerda L; Salmo RASKIN; Graf H. 1998. Description of a brazilian patient bearing the r271w pit-1</i> gene mutation. Thyroid (new york; n.y.). 8, (4) 299-304.
  154. Health Sciences Medicine (miscellaneous)
    Zetola VH; Scola R; Salmo RASKIN; Prevedello Dm Correa Neto Y; Werneck L. 1998. Rigid spine syndrome: case report. Arquivos de neuro-psiquiatria (impresso). 56, (4) 812-818.
  155. Life Sciences Neurology
    D R Kaimen MACIEL; M C R MEDEIROS; V M CLIMACO; G L R KELIAN; L S T SILVA et al. 1998. Atrofia muscular bulbo espinhal recessiva ligada ao cromossomo x (doença de kennedy): estudo de uma família. Arquivos de neuro-psiquiatria (impresso). 56, 639-645.
  156. Health Sciences General Medicine
    Salmo RASKIN. 1997. Avaliação do risco fetal por uma gota de sangue em papel filtro. Newslab. 18, 130-131.
  157. Life Sciences Genetics
    Salmo RASKIN; Leal M F. 1997. Avaliação do risco fetal para doenças genética por marcadores bioquímicos: uma nova proposta. Revista de atualização em ginecologia e obstetrícia. VIII, (4) 210-.
  158. Life Sciences Genetics
    Salmo RASKIN; Phillips J A III; Krishnamani M R S; Vnencak Jones C; Parker R A et al. 1997. Cystic fibrosis in the brazilian population: df508 mutation and km-19/xv-2c haplotype distribution. Human biology. 69, (4) 499-508.
  159. Health Sciences Genetics (clinical)
    Salmo RASKIN; Phillips J A III; Krishnamani M R S; Vnencak Jones C; Parker R A et al. 1997. Regional distribution of cystic fibrosis - linked dna haplotypes in brazil: multicenter study. Human biology. 69, (1) 75-88.
  160. Social Sciences & Humanities Psychology (miscellaneous)
    Salmo RASKIN; Leal M F. 1997. Validade da técnica de pcr-str na determinação de paternidade em dna. Laes/haes. 34, 100-.
  161. Life Sciences Genetics
    Salmo RASKIN; Phillips J A III; Summar M L; Sherrill C G; Garr J L et al. 1996. Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism. Human genetics. 98, 703-705.
  162. Health Sciences Psychiatry and Mental Health
    Salmo RASKIN. 1996. Teste de dna para a doença de alzheimer. O dendrito. Ano 3, (3) 321-3223.
  163. Life Sciences Genetics
    Rogan P K; Seip J; Driscoll D; Papenhausen P; Johnson V et al. 1996. Distinct 15q genotypes in russell-silver and ring 15 syndromes. American journal of medical genetics. 62, 10-15.
  164. Health Sciences Genetics (clinical)
    Maróstica P; Santos J; Souza W; Silva F; Salmo RASKIN. 1995. Estimativa da incidência de fibrose cística em porto alegre: análise a partir da frequência da mutação df508 em recém-nascidos normais. Revista amrigs. 39, (3) 205-207.
  165. Life Sciences Genetics
    Deka R; Miki T; Yin S J; Mcgarvey S T; Shiver M D et al. 1995. Normal cag repeat variation at the drpla locus in world populations. American journal of medical genetics. 57, 508-511.
  166. Life Sciences Genetics
    Salmo RASKIN. 1995. Ética e genética. Educar em revista. 11, 27-32.
  167. Social Sciences & Humanities Education
    Almeida M; Salmo RASKIN. 1995. Da necessidade de uma nova união entre o direito e a medicina genética. Tribuna do judiciário. 3, 100-.
  168. Health Sciences Genetics (clinical)
    Hamosh A; B J ROSENSTEIN; E NASH; S M CURRISTIN; Garry CUTTING et al. 1993. Correlation between genotype and phenotype in patients with cystic fibrosis. New england journal of medicine (print). 329, (18) 1308-1313.
  169. Life Sciences Genetics
    Salmo RASKIN; Phillips J A III; Krihnamani M R S; Vnencak Jones C; Parker R A et al. 1993. Dna analysis of cystic fibrosis in brazil by direct pcr amplification from guthrie cards. American journal of medical genetics (print) (cessou em 2002. foi desdobrado em três: issn 1552-4825; 1552-4841 e 1552-4868). 46, 665-669.
  170. Health Sciences Genetics (clinical)
    Chakraborty R; Srinivasan M R; Salmo RASKIN. 1993. Estimation of the incidence of a rare genetic disease through a two-tier mutation survey. American journal of medical genetics. 52, 1129-1138.
  171. Life Sciences Neurology
    Taylor B A; Salmo RASKIN. 1993. Mapping of a pit-1 pcr-rflv in recombinant inbred strains. Mouse genome. 91, (1) 134-136.
  172. Life Sciences Genetics
    Salmo RASKIN; J A Iii PHILIPIS; C VNENCAKJONES. 1992. Utility of internal markers to improve the accuracy of cystic fibrosis genotype analysis. Biotechniques. 13, (3) 372-374.
  173. Life Sciences Genetics
    Salmo RASKIN; J A Iii PHILLIPIS; G KAPLAN; M MCCLURE; C VNENCAKJONES. 1992. Cystic fibrosis genotyping by direct pcr analysis of guthrie blood spots. Pcr methods and applications. 2, 154-156.
  174. Health Sciences Genetics (clinical)
    Salmo RASKIN; Phillips J A III. 1992. Genetic diagnosis of cystic fbrosis in the perinatal period. Tennessee perinatal association. Estados Unidos. 2, (1) 6-6.
  175. Health Sciences Medicine (miscellaneous)
    Cabanero J C M; Jurado L A P; Salmo RASKIN; Vicario J L; Perez A B et al. 1992. Simple method for cystic fibrosis carrier screening. Lancet (british edition). 340, (8825) 983-984.
  176. Life Sciences Genetics
    Osborne L; G SANTIS; Schwarz M; Klinger K; Salmo RASKIN. 1992. Incidence and expression of the n1303k mutation of the cystic fibrosis (cftr) gene. Human genetics. 89, 653-658.
  177. Health Sciences Medicine (miscellaneous)
    Salmo RASKIN; A LUIZ; M VIEIRA. 1988. Síndrome de dressler - um diagnóstico esquecido?. Revista médica do paraná. 46, (1) 7-10.
  1. Health Sciences General Medicine
    Salmo RASKIN. 2017. Apresentando o tea aos pais e familiares. In: Entendendo o autismo: guia prático para familiares e profissionais da área. Brasil.
  2. Life Sciences Neuroscience (miscellaneous)
    Salmo RASKIN. 2012. Doenças genéticas em otoneurologia. In: A multidisciplinaridade na otoneurologia. Brasil.
  3. Life Sciences Genetics
    Salmo RASKIN; Fábio Rueda FAUCZ; Salmo RASKIN. 2006. Genética clínica - noções de biologia molecular. In: Tratado de pediatria. Brasil.
  4. Life Sciences Genetics
    Salmo RASKIN; Aba Perez Ap Marques De FARIA. 2005. Genética médica: teste laboratorial para diagnóstico de doenças sintomáticas. In: Projeto diretrizes. Brasil.
  5. Life Sciences Genetics
    Salmo RASKIN; Murilo Sousa De MENEZES; Hélio A TEIVE; Salo HARATZ. 2002. Genética da doença de parkinson. In: Doença de parkinson: aspéctos clínicos e cirúrgicos. Brasil.
  6. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Salmo RASKIN; Fábio Rueda FAUCZ. 2001. Conceitos básicos e principais técnicas de análise molecular. In: Doenças genéticas em pediatria. Brasil.
  7. Life Sciences Genetics
    Salmo RASKIN; Fábio Rueda FAUCZ. 2001. Aspéctos genéticos da fibrose cística. In: Doenças genéticas em pediatria. Brasil.
  8. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Decio BRUNONI; Salmo RASKIN. 2001. Conceitos básicos e principais técnicas de análise molecular. In: Doenças genéticas em pediatria. Brasil.
  9. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Salmo RASKIN; Fábio Rueda FAUCZ. 2000. Aspectos genéticos da fibose cística. In: Doenças genéticas em pediatria. Brasil.
  10. Social Sciences & Humanities Psychology (miscellaneous)
    Salmo RASKIN. 2000. A análise de dna na determinação de paternidade: mitos e verdades no limiar do século xxi. In: Grandes temas da atualidade - dna como meio de prova da filiação. Brasil.
  11. Health Sciences Medicine (miscellaneous)
    Salmo RASKIN; Silvia Regina Caminada De TOLEDO; Decio BRUNONI. 1998. Aspectos genéticos em doenças pulmonares. In: Pneumologia: atualização e reciclagem. Brasil.
  12. Life Sciences Genetics
    Salmo RASKIN. 1998. Genética da síndrome de gilles tourette. In: Síndrome de gilles de la tourette: tiques nervosos e transtornos de comportamento associados na infância e adolescência. Brasil.
  13. Life Sciences Clinical Biochemistry
    Salmo RASKIN; Phillips J A III. 1993. Genes pertinent to human endocrinology. In: Genetic maps. Estados Unidos.
  1. Health Sciences Health Professions (miscellaneous)
    Ana Paula MYSZCZUK; Antonio Carlos EFING; Carlos Maria Romeo CASABONA; Carolina EFING; Cinthia Obladen De Almeida FREITAS et al. 2023. Direito à saúde e invisibilidade. Brasil.
  2. Social Sciences & Humanities Education
    Salmo RASKIN. 1999. Manual prático do dna. Brasil.