Chong Ae Kim

Dados pessoais

Lattes
Grupos de Pesquisa
Genealogia Acadêmica

Nacionalidade: Brasileira
Grande área de atuação: Ciências da Saúde
Área de atuação: Medicina

Publicações

Total: 988

Área temática ASJC

Percentual das publicações classificadas

HS Ciências da Saúde
LS Ciências da Vida
MU Multidisciplinar
PS Ciências Físicas
SH Ciências Sociais e Humanidades

Categoria ASJC

Categorias ASJC mais frequentes

Nome	Vínculo	Grande área de atuação	Área de atuação
Nome	Vínculo	Grande área de atuação	Área de atuação
Carla Gentile MATAS		Ciências da Saúde	Fonoaudiologia
Carlos Augusto Galvão BARBOZA		Ciências Biológicas	Morfologia
Celia Priszkulnik KOIFFMANN		Ciências Biológicas	Genética
Claudia Berlim De MELLO		Ciências Humanas	Psicologia
Dafne Dain Gandelman HOROVITZ		Ciências da Saúde	Medicina
Débora Gusmão MELO		Ciências da Saúde	Medicina
Débora Maria Befi LOPES	Membro	Ciências da Saúde	Fonoaudiologia
Decio BRUNONI		Ciências Biológicas	Genética
Erasmo Barbante CASELLA		Ciências da Saúde	Medicina
Fernanda Tebexreni ORSATI		Ciências Humanas	Psicologia
Juan Clinton Llerena JUNIOR		Ciências da Saúde	Medicina
Luiz Renato Rodrigues CARREIRO		Ciências Humanas	Psicologia
Márcia Helena Da Silva MELO		Ciências Humanas	Psicologia
Milena Coelho Fernandes CALDATO		Ciências da Saúde	Medicina
Paulo Ricardo Gazzola ZEN		Ciências da Saúde	Medicina
Paulo Sérgio BOGGIO	Membro	Ciências Biológicas	Fisiologia
Roberto GIUGLIANI	Membro	Ciências Biológicas	Genética
Vânia D ALMEIDA	Membro	Ciências Biológicas	Bioquímica

Figura 1

Número de publicações por ano e por tipo

Todas as publicações do perfil

Figura 2

Categorias ASJC mais frequentes por ano

A cor dos pontos identifica a categoria predominante

Figura 3

Mapa de calor das categorias ASJC por ano

Frequências absolutas; cores mais escuras indicam mais publicações. Todas as categorias ASJC e anos disponíveis, sem aplicar os filtros da página.

Escala: 0 → 17

Mapa de calor das categorias ASJC por ano
Categoria ASJC	1980	1983	1984	1985	1986	1987	1988	1989	1991	1992	1993	1994	1995	1996	1997	1998	1999	2000	2001	2002	2003	2004	2005	2006	2007	2008	2009	2010	2011	2012	2013	2014	2015	2016	2017	2018	2019	2020	2021	2022	2023	2024	2025	2026
1311 · Genetics	0	1	0	1	2	0	0	0	6	1	1	4	2	9	2	4	17	6	4	4	2	6	13	11	8	7	5	6	12	8	11	10	7	11	10	3	5	2	4	8	1	1	7	1
2716 · Genetics (clinical)	1	0	0	0	0	0	1	2	2	0	0	1	1	7	5	3	11	10	9	11	9	15	12	2	3	3	6	11	0	8	3	5	5	7	8	3	7	4	5	8	10	10	4	2
2701 · Medicine (miscellaneous)	2	1	1	0	1	1	0	2	2	5	5	6	0	1	4	5	4	6	7	7	7	2	0	4	10	5	5	7	1	5	6	3	2	5	6	4	6	0	2	5	0	0	0	0
2735 · Pediatrics; Perinatology and Child Health	1	0	1	2	0	0	0	2	0	2	3	6	3	2	1	3	2	2	2	5	1	2	2	0	3	1	1	2	0	1	1	1	2	1	2	1	0	0	1	2	3	1	0	1
3201 · Psychology (miscellaneous)	0	1	0	0	0	0	0	0	1	3	3	5	4	2	5	1	1	0	0	2	1	1	1	0	0	1	1	2	1	1	2	1	0	0	0	2	2	0	0	4	0	0	0	0
2728 · Neurology (clinical)	1	0	0	0	1	1	0	0	0	0	1	2	3	1	1	0	1	2	0	3	2	1	3	3	0	1	1	0	0	3	1	1	1	3	2	0	3	1	1	1	2	0	0	0
2808 · Neurology	0	0	0	0	0	0	0	1	1	0	0	1	2	1	2	1	2	5	5	1	0	2	0	1	1	0	4	1	2	3	0	0	0	0	2	4	0	0	2	0	0	0	0	0
2801 · Neuroscience (miscellaneous)	0	0	0	0	0	1	0	0	0	0	2	0	0	1	1	1	0	1	3	0	0	1	0	1	1	1	1	0	1	0	5	1	0	3	2	1	0	1	0	0	0	0	0	0
1301 · Biochemistry; Genetics and Molecular Biology (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	0	0	1	0	0	0	0	1	0	2	0	2	2	1	1	0	0	0	3	0	1	0	0	1	0	0	0
1312 · Molecular Biology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	1	0	1	1	0	0	0	1	1	0	0	0	0	0	1	0	1	0	0	1
2710 · Embryology	0	0	0	0	0	0	0	1	0	0	1	0	0	1	0	1	2	1	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2712 · Endocrinology; Diabetes and Metabolism	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	2	0	0	0	0	0	0	0	0	0	1	0	0	3	1	0	0
2741 · Radiology; Nuclear Medicine and Imaging	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	4	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0
1309 · Developmental Biology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	2	0	0	0	0	0	0	0	0	2	1	0	0	0	1	1	0
2705 · Cardiology and Cardiovascular Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	2	0	1	0	0	0	0	0	1	1	0	0	0	0
2738 · Psychiatry and Mental Health	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	2	1	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0
3304 · Education	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0
2725 · Infectious Diseases	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	1	0	0	0	0	0	2	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0
1308 · Clinical Biochemistry	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0
2700 · General Medicine	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0
2734 · Pathology and Forensic Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	0	0	0	2	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0
1203 · Language and Linguistics	1	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0
3616 · Speech and Hearing	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0
1103 · Animal Science and Zoology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0
1702 · Artificial Intelligence	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0
2723 · Immunology and Allergy	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0
2204 · Biomedical Engineering	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2708 · Dermatology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0
2713 · Epidemiology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0
2715 · Gastroenterology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	0
2724 · Internal Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2731 · Ophthalmology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0
2732 · Orthopedics and Sports Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2736 · Pharmacology (medical)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
3310 · Linguistics and Language	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1300 · General Biochemistry; Genetics and Molecular Biology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1302 · Aging	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1303 · Biochemistry	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1310 · Endocrinology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1313 · Molecular Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0
1314 · Physiology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1402 · Accounting	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0
2301 · Environmental Science (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2401 · Immunology and Microbiology (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0
2405 · Parasitology	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2702 · Anatomy	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0
2704 · Biochemistry (medical)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2720 · Hematology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2722 · Histology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2727 · Nephrology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2730 · Oncology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2733 · Otorhinolaryngology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0
2739 · Public Health; Environmental and Occupational Health	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2746 · Surgery	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0
2803 · Biological Psychiatry	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2806 · Developmental Neuroscience	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2809 · Sensory Systems	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0
2919 · Pediatrics	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0
3001 · Pharmacology; Toxicology and Pharmaceutics (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0
3203 · Clinical Psychology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
3204 · Developmental and Educational Psychology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0
3206 · Neuropsychology and Physiological Psychology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
3300 · General Social Sciences	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0
3607 · Medical Laboratory Technology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0

Ano	Tipo	Registro	Área temática e categoria ASJC
	Tipo de Publicação	Registro	Área temática e categoria ASJC
2006	Artigo em periódico	Mutational screening of FGFR1; CER1; and CDON in a large cohort of trigonocephalic patients F S JEHEE; L G ALONSO; D P CAVALCANTI; Chong Ae KIM; S A WALL et al Cleft Palate-Craniofacial Journal ISSN 1055-6656	LS Genetics
2006	Artigo em periódico	Cockayne syndrome type A: novel mutations in eight typical patients. D R BEROLA; Hernian CAO; L M J ALBANO; Daniela P OLIVEIRA; F KOK et al Journal of Human Genetics ISSN 1434-5161	LS Neurology
2006	Artigo em periódico	Exuberant Juvenile hyaline Fibromatosis in Two Patients Mariela Leão MUNIZ; Alice Zoghbi Coelho LOBO; M C MACHADO; Neusa Yuriko Sakai VALENTE; Chong Ae KIM et al Pediatric Dermatology ISSN 0736-8046	LS Genetics
2006	Artigo em periódico	PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome and Noonan-like phenotype. D R BEROLA; A C PEREIRA; L M J ALBANO; D P OLIVEIRA; Chong Ae KIM et al Genetic Testing ISSN 1090-6576	LS Genetics
2006	Artigo em periódico	Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations A C Krepischi SANTOS; A M Morgante VIANNA; F S JEHEE; M R Passo BUENO; J KNIJNENBURG et al Cytogenetic and Genome Research ISSN 1424-8581	LS Genetics
2005	Capítulo de livro	Síndromes Genéticas e Cardiopatias D R BERTOLA; L M J ALBANO; Chong Ae KIM Tratado de Cardiologia	HS Cardiology and Cardiovascular Medicine
2005	Trabalho em evento	Clinical follow up of the five patients with Rothmund Thomson: importance of osteosarcoma Claudia Renata Leite SILVA; Debora Romeo BERTOLA; L M J ALBANO; Vicente Odone FILHO; Chong Ae KIM 55th Annual Meeting The American Society of Human Genetics	HS Genetics (clinical)
2005	Trabalho em evento	Clinical study of the five patients with Trichorhinophalangeal syndrome L Mj ALBANO; T B BRASIL; M B MOREIRA; C R L SILVA; D R BERTOLA et al 55th Annual Meeting The American Society of Human Genetics	HS Genetics (clinical)
2005	Trabalho em evento	Prader-Willi-like phenotype: Investigation of 1p36 deletion in 41 patients with delayed psychomotor development; hypotonia; obesity and/or hyperphagia; learning disabilities and behavioral problems C S DÁNGELO; J A PAZ; Chong Ae KIM; D R BERTOLA; C I E CASTRO et al 55th Annual Meeting The American Society of Human Genetics	LS Genetics
2005	Trabalho em evento	CKN1 gene analysis in Cockayne syndrome: novel mutations in eight typical patients D R BEROLA; H CAO; L M J ALBANO; D P OLIVEIRA; F KOK et al 55th Annual Meeting The American Society of Human Genetics	LS Genetics
2005	Trabalho em evento	A new case of intersticial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity M C VARELA; Chong Ae KIM; D R BEROLA; A Y Simões SATO; C I E C FABRIS et al 55th Annual Meeting The American Society of Human Genetics	LS Genetics
2005	Trabalho em evento	Ring chromosome syndrome: report of 12 cases B VASCONCELOS; L M J ALBANO; C I E CASTRO; D R BEROLA; I C SBRUZZI et al 55th Annual Meeting The American Society of Human Genetics	HS Genetics (clinical)
2005	Trabalho em evento	Study of the PTPN11 gene in 58 probands with Noonan syndrome and Noonan-like phenotype Debora Romeo BERTOLA; A C PEREIRA; Chong Ae KIM; L Mj ALBANO; J E KRIEGER XVII Congresso Brasileiro de Genética Clínica	LS Genetics
2005	Trabalho em evento	Marrow aplasia in a child with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) A C PAULA; J D CARNEIRO; M B G COSTA; A C G M SANTOS; T P DELBONI et al XVII Congresso Brasileiro de Genética Clínica	HS Genetics (clinical)
2005	Trabalho em evento	Síndrome do cromossomo em anel B VASCONCELOS; I C SBRUZZI; L Mj ALBANO; D R BERTOLA; C P KOIFFMANN et al XVII Congreeso Brasileiro de Genética Clínica	LS Genetics
2005	Trabalho em evento	Further evidence that the T731 PTPN11 gene mutation is associated with myeloprliferative disorder in Noonan syndrome D R BERTOLA; A C PEREIRA; J D A CARNEIRO; J KRIEGER; Chong Ae KIM Annual Clinical Genetics Meeting	HS Genetics (clinical)
2005	Trabalho em evento	Study of the PTPN11 gene in 58 probands with Noonan syndrome and Noonan-like phenotype D R BERTOLA; A C PEREIRA; Chong Ae KIM; L M J ALBANO; J KRIEGER XVII Congresso Nacional de Genética Clínica	HS Genetics (clinical)
2005	Trabalho em evento	Mucopolysaccharidosis I (Hurler-Scheie) with non coarse facial features A C PAULA; A C G M SANTOS; T P DELBONI; Debora Romeo BERTOLA; L M J ALBANO et al 5th International Symposium on Lysosomal Storage Diseases	LS Genetics
2005	Trabalho em evento	Monozygotic twins discordant for cystic microphthalmia; abnormalities of first branchial arch and midline structures: a variant of oculocerebrocutaneous syndrome? Chong Ae KIM; L M J ALBANO; L R S SADECK; C R LEONE; G F GATTAS et al Annual Clinical Genetics Meeting	HS Genetics (clinical)
2005	Trabalho em evento	Marrow aplasia in a child with mucopollyssacharidosis VI (Maroteaux-Lamy syndrome) A C PAULA; J D CARNEIRO; A C G M SANTOS; T P DELBONI; D R BERTOLA et al 5th International Symposium on Lysosomal Storage Diseases	LS Genetics
2005	Trabalho em evento	Late dignosis in Fabry disease: report of a familly with five affected members D R BERTOLA; L M J ALBANO; G N LEAN; L C F SÁ; R GIUGLIANAI et al International Workshop on Lysossomal Storage Disorders	HS Genetics (clinical)
2005	Trabalho em evento	Evolução clínica de cinco pacientes com Rothmund Thomson: importância do osteosarcoma Claudia Renata Leite SILVA; Vicente Odone FILHO; Chong Ae KIM; L M J ALBANO; D R BERTOLA XVII Congresso Nacional de Genética Clínica	HS Oncology
2005	Trabalho em evento	Associação das sequências de Poland e Moebius em uma paciente Claudia Renata Leite SILVA; Tatiana De MATTOSHIROOKA; Maria Joaquina Marques DIAS; Chong Ae KIM; L M J ALBANO et al XVII Congresso Nacional de Genética Clínica	HS Genetics (clinical)
2005	Trabalho em evento	Phenotypic overlap in Melnick-Needles; serpentine fibula-polycystic kidney; and Hajdu-Cheney syndromes: a clinical and molecular study in three patients. L M J ALBANO; Chong Ae KIM; D R BERTOLA; M F BARBA; S P ROBERTSON XVII Congresso Nacional de Genética Clínica	HS Genetics (clinical)
2005	Trabalho em evento	Mucopolysaccharidosis I (Hurler-Scheie) with non coarse facial features Ana Carolina PAULA; A C G M SANTOS; T P DELBONI; Debora Romeo BERTOLA; L M J ALBANO et al XVII Congresso Nacional de Genética Clínica	HS Genetics (clinical)

2006 Artigo em periódico

LS Genetics

Mutational screening of FGFR1; CER1; and CDON in a large cohort of trigonocephalic patients

Cleft Palate-Craniofacial Journal

F S JEHEE; L G ALONSO; D P CAVALCANTI; Chong Ae KIM; S A WALL et al

ISSN 1055-6656

2006 Artigo em periódico

LS Neurology

Cockayne syndrome type A: novel mutations in eight typical patients.

Journal of Human Genetics

D R BEROLA; Hernian CAO; L M J ALBANO; Daniela P OLIVEIRA; F KOK et al

ISSN 1434-5161

2006 Artigo em periódico

LS Genetics

Exuberant Juvenile hyaline Fibromatosis in Two Patients

Pediatric Dermatology

Mariela Leão MUNIZ; Alice Zoghbi Coelho LOBO; M C MACHADO; Neusa Yuriko Sakai VALENTE; Chong Ae KIM et al

ISSN 0736-8046

2006 Artigo em periódico

LS Genetics

PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome and Noonan-like phenotype.

Genetic Testing

D R BEROLA; A C PEREIRA; L M J ALBANO; D P OLIVEIRA; Chong Ae KIM et al

ISSN 1090-6576

2006 Artigo em periódico

LS Genetics

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

Cytogenetic and Genome Research

A C Krepischi SANTOS; A M Morgante VIANNA; F S JEHEE; M R Passo BUENO; J KNIJNENBURG et al

ISSN 1424-8581

2005 Capítulo de livro

HS Cardiology and Cardiovascular Medicine

Síndromes Genéticas e Cardiopatias

Tratado de Cardiologia

D R BERTOLA; L M J ALBANO; Chong Ae KIM

2005 Trabalho em evento

HS Genetics (clinical)

Clinical follow up of the five patients with Rothmund Thomson: importance of osteosarcoma