Roberto Giugliani

Dados pessoais Membro

Lattes
Grupos de Pesquisa
Genealogia Acadêmica

Nacionalidade: Brasileira
Grande área de atuação: Ciências Biológicas
Área de atuação: Genética

Publicações

Total: 1765

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
Alicia Matijasevich MANITTO		Ciências da Saúde	Saúde Coletiva
Ana Maria Marques Da SILVA		Ciências Exatas e da Terra	Física
Bernardo Lessa HORTA		Ciências da Saúde	Medicina
Bruno Duarte GOMES	Membro	Ciências Biológicas	Fisiologia
Carlos Alberto Saraiva GONÇALVES	Membro	Ciências Biológicas	Bioquímica
Carlos Alexandre NETTO	Membro	Ciências Biológicas	Bioquímica
Carmen Lucia Bezerra MACHADO		Ciências Humanas	Educação
Chong Ae KIM		Ciências da Saúde	Medicina
Christian Costa KIELING		Ciências da Saúde	Medicina
Dafne Dain Gandelman HOROVITZ		Ciências da Saúde	Medicina
Decio BRUNONI		Ciências Biológicas	Genética
Diogo Onofre Gomes De SOUZA		Ciências Biológicas	Bioquímica
Jaderson Costa Da COSTA	Membro	Ciências da Saúde	Medicina
Jair Licio Ferreira SANTOS		Ciências Sociais Aplicadas	Demografia
Juan Clinton Llerena JUNIOR		Ciências da Saúde	Medicina
Luciana Neves NUNES		Ciências Humanas	Educação
Maria Raquel Santos CARVALHO		Ciências Biológicas	Genética
Paulo Ricardo Gazzola ZEN		Ciências da Saúde	Medicina
Vânia D ALMEIDA	Membro	Ciências Biológicas	Bioquímica
Vera Maria Treis TRINDADE		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 → 45

Mapa de calor das categorias ASJC por ano
Categoria ASJC	1980	1981	1982	1983	1984	1985	1986	1987	1988	1989	1990	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
2716 · Genetics (clinical)	1	1	1	1	0	1	4	1	0	1	1	1	6	4	1	6	6	4	7	23	12	19	11	42	37	35	45	39	33	16	4	8	6	14	9	7	5	9	4	7	7	14	6	7	4	7	1
1311 · Genetics	0	1	0	0	1	2	2	0	0	2	5	2	0	1	2	2	5	8	10	22	13	13	25	28	22	37	16	18	22	12	6	4	1	5	6	6	3	3	6	7	4	4	6	2	2	2	0
2701 · Medicine (miscellaneous)	0	0	0	1	1	1	3	1	2	0	1	0	1	3	3	1	2	5	7	14	10	14	26	23	25	35	17	32	33	8	1	5	8	5	4	6	3	8	5	2	4	5	5	0	1	1	1
1301 · Biochemistry; Genetics and Molecular Biology (miscellaneous)	0	0	0	0	1	0	0	1	0	3	1	1	0	0	0	2	1	0	3	9	2	7	3	12	9	14	8	20	3	4	0	2	5	1	8	6	6	5	6	3	3	4	4	2	0	0	0
2735 · Pediatrics; Perinatology and Child Health	0	0	0	0	0	0	0	0	0	0	1	2	2	0	1	3	1	3	1	1	2	3	0	0	2	5	4	6	2	2	2	2	3	0	2	1	0	2	1	0	1	0	2	0	1	1	0
2712 · Endocrinology; Diabetes and Metabolism	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	0	1	0	3	8	0	1	5	5	4	5	1	0	0	0	0	1	0	0	1	0	0	1	0	0	0	2	2	1
2728 · Neurology (clinical)	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	1	1	0	1	3	1	0	0	4	3	1	1	1	0	0	3	0	0	2	1	2	0	0	0	1	0	1	0	1	0
1308 · Clinical Biochemistry	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	1	1	0	0	1	5	2	2	1	2	1	1	0	1	2	0	1	3	0	0	0	0	1	0	0	0	0
1312 · Molecular Biology	0	0	0	0	0	0	0	0	0	0	0	0	2	0	0	0	0	1	1	0	3	0	0	0	0	0	1	2	0	1	1	1	4	0	3	0	0	2	1	0	1	1	0	2	0	0	1
2700 · General Medicine	0	0	0	1	0	0	0	0	1	0	2	0	0	0	0	0	0	0	0	0	2	0	1	0	1	1	0	0	1	0	0	0	1	0	0	2	1	0	1	1	0	1	0	1	0	0	0
2736 · Pharmacology (medical)	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	1	1	0	0	0	0	2	0	2	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	1	0	1	2	0
1303 · Biochemistry	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	2	0	1	1	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	2	0
2808 · Neurology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	1	2	0	2	2	1	0	0	0	0	0	0	0	0	0	0	2	0	1	0	0	0	0	0	0
2713 · Epidemiology	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	2	0	0	2	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	1	1
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	1	2	1	3	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1
2739 · Public Health; Environmental and Occupational Health	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	1	1	0	1	0	0	1	0	0	0	2	1	1	0
2741 · Radiology; Nuclear Medicine and Imaging	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	3	1	1	1	0	0	0	0	0	0	0	1	0	1	0	0	1	1	0	0	0	0	0
2724 · Internal 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	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	1	1	2	2
2730 · Oncology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	2	0	4	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0
3201 · Psychology (miscellaneous)	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	1	1	0	0	0	0	1	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1306 · Cancer Research	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	0	2	0	0	0	4	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1307 · Cell Biology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	3	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0
2801 · Neuroscience (miscellaneous)	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	3	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0
2705 · Cardiology and Cardiovascular Medicine	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	1	0	0	1	0	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1
1402 · Accounting	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	0	0	0	0	0	0	2	0	0	0	0	0	0	0	0	0	0	2	0	0
2725 · Infectious Diseases	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	3	1	0	0	1	0	0	0	0	0	0	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	1	0	0	1	1	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2710 · Embryology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	1	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2729 · Obstetrics and Gynecology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	1	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
2748 · Urology	2	2	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	0	0	0	0	0	0	0
1305 · Biotechnology	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	0	2	1
1314 · Physiology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	2	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0
2719 · Health Policy	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0
2919 · Pediatrics	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	1	0	0	0	1	0	0	0	0	1	0	0	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	1	0	1	1	1	0	0	0	0	0	0	0	0	0
3004 · Pharmacology	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	1	0	0	0	2	0	0	0	0	0	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	0	0	0	0	0	0	0	1	0	1	0	1	0	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	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	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	0	0	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0
3501 · Dentistry (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	1	0	0	0	0	0	1	1	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	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0
1310 · Endocrinology	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	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2738 · Psychiatry and Mental Health	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	0	0	0	0
2740 · Pulmonary and Respiratory 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	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2743 · Reproductive Medicine	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2916 · Nutrition and Dietetics	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	1	0	0	0	0	0	0	0	0	0	0
3003 · Pharmaceutical Science	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	0	0	2	0	0
3301 · Social Sciences (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	1	0	0	0	0	0	0	0	0	0	1	0	0	0	0
1000 · Multidisciplinary	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	0	0	0
1202 · History	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	0	0	1	0	0
1207 · History and Philosophy of Science	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	0	0	1	0	0
2301 · Environmental Science (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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2404 · Microbiology	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	0	0	0
2406 · Virology	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	0	0	0
2717 · Geriatrics and Gerontology	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	0	0	0	1	0
2718 · Health Informatics	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	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	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
2731 · Ophthalmology	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	0	0	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	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
2734 · Pathology and Forensic 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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2737 · Physiology (medical)	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	0	0	0
2744 · Reviews and References (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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2802 · Behavioral Neuroscience	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	0	0	0	0
2901 · Nursing (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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2913 · Maternity and Midwifery	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	0	0	0
3005 · Toxicology	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	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	0	1	0	0	0	0	0	0	0	0	0	0	0
3304 · Education	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	0	0	0
3601 · Health Professions (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	1	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
2004	Trabalho em evento	RADIOLOGIC MANIFESTATIONS OF 5 BRAZILIAN CASES OF MUCOPOLYSACCHARIDOSIS VI (MAROTEUAX-LAMY SYNDROME) A C PAULA; A C G M SANTOS; T P DELBONI; D R BERTOLA; L M J ALBANO et al THE AMERICAN SOCIETY OF HUMAN GENETICS - 54TH ANNUAL MEETING	HS Radiology; Nuclear Medicine and Imaging
2004	Trabalho em evento	IDENTIFICATION AND CHARACTERIZATION OF PATIENTS AT-RISK FOR HEREDITARY BREAST CANCER IN A COMMUNITY-BASED STUDY IN SOUTHERN BRAZIL P ASHTONPROLLA; M CALEFFI; E I PALMERO; L KALAKUN; Roberto GIUGLIANI et al THE AMERICAN SOCIETY OF HUMAN GENETICS - 54TH ANNUAL MEETING	LS Genetics
2004	Trabalho em evento	ORAL DEFECTS OF BRAZILIAN CASES OF MUCOPOLYSACCHARIDOSIS A C SANTOS; A C PAULA; T P DELBONI; D R BERTOLA; L M ALBANO et al THE AMERICAN SOCIETY OF HUMAN GENETICS - 54TH ANNUAL MEETING	HS Genetics (clinical)
2004	Trabalho em evento	AN INTERNATIONAL; MULTICENTER; LONGITUDINAL OBSERVATIONAL STUDY EVALUATING THE NATURAL HISTORY OF MUCOPOLYSACCHARIDOSIS II (HUNTER SYNDROME). A KIMURA; M BECK; Roberto GIUGLIANI; J FLETCHER; J HOPWOOD et al THE AMERICAN SOCIETY OF HUMAN GENETICS - 54TH ANNUAL MEETING	LS Genetics
2004	Trabalho em evento	CNS INVOLVEMENT IN FABRY`S DISEASE: AN IMAGE STUDY DURING 24 MONTHS OF ERT. L B JARDIM; L VEDOLIN; C CECCHIN; L KALAKUN; F AESSE et al THE AMERICAN SOCIETY OF HUMAN GENETICS - 54TH ANNUAL MEETING	HS Oncology
2004	Trabalho em evento	STUDY OF NATURAL HISTORY OF JUVENILE GM2 GANGLIOSIDOSES - ANALYSIS OF 20 PATIENTS. Roberto GIUGLIANI; G MAEGAWA; M TROPAK; D MAHURAN; T STOCKLEY et al THE AMERICAN SOCIETY OF HUMAN GENETICS - 54TH ANNUAL MEETING	HS Pediatrics; Perinatology and Child Health
2004	Trabalho em evento	A CROSS-SECTIONAL SURVEY STUDY TO COLLECT NORMATIVE DATA IN PATIENTS WITH NIEMANN-PICK B DISEASE. M M MCGOVERN; M P WASSERSTEIN; R J DESNICK; M VANIER; B BEMBI et al THE AMERICAN SOCIETY OF HUMAN GENETICS - 54TH ANNUAL MEETING	LS Genetics
2004	Trabalho em evento	NEONATAL SCREENING OF INHERITED NON-SYNDROMIC CONGENITAL DEAFNESS: RESULTS OF A PILOT PROGRAM IN SOUTH BRAZIL E LEWIS; F AMORIM; Jurema Fátima De MARI; C CASTILHOS; Têmis Maria FÉLIX et al THE AMERICAN SOCIETY OF HUMAN GENETICS - 54TH ANNUAL MEETING	LS Genetics
2004	Trabalho em evento	AVALIAÇÃO DA MIGRAÇÃO DE CÉLULAS TRONCO DE MEDULA EM RATOS SUBMETIDOS A LESÃO HEPÁTICA FULMINANTE - RESULTADOS PRELIMINARES G BALDO; M C BELARDINELLI; A H PAZ; M MELENDEZ; E Cirne LIMA et al CONGRESSO BRASILEIRO DE GENÉTICA	LS Genetics
2004	Trabalho em evento	A THRESHOLD EFFECT OF URINARY GLYCOSAMINOGLYCANS AND WALK TEST AS INDICATORS OF DISEASE PROGRESSION IN A SURVEY OF SUBJECTS WITH MUCOPOLYSACCHARIDOSIS VI (MAROTEAUX-LAMY SYNDROME) S J SWIEDLER; M BECK; M BAJBOUJ; Roberto GIUGLIANI; Ida Vanessa SCHWARTZ et al 2004 CONFERENCE OF THE EUROPEAN SOCIETY OF HUMAN GENETCS	LS Genetics
2004	Trabalho em evento	FUNÇÃO PULMONAR EM 20 BRASILEIROS COM MUCOPOLISSACARIDOSE TIPO I E ATENDIDOS NO HOSPITAL DE CLÍNICAS DE PORTO ALEGRE Roberto GIUGLIANI XXXII CONGRESSO BRASILEIRO DE PNEUMOLOGIA E TISIOLOGIA E III CONGRESSO LUSO-BRASILEIRO DE PNEUMOLOGIA	HS Genetics (clinical)
2004	Artigo em periódico	Melanoma hereditário: prevalência de fatores de risco em um grupo de pacientes no sul do Brasil. C A CARVALHO; M E CUNHA; Roberto GIUGLIANI; L BAKOS; P ASHTONPROLLA Anais Brasileiros de Dermatologia ISSN 0365-0596	LS Genetics
2004	Artigo em periódico	S100B content and SOD activity in amniotic fluid of pregnances with Down Syndrome. Cristina Brinckmann De Oliveira NETTO; I R SIQUEIRA; C FOCHESATTO; L V PORTELA; M P TAVARES et al Clinical Biochemistry DOI 10.1016/j.clinbiochem.2003.09.010 ISSN 0009-9120	HS Biochemistry (medical)
2004	Artigo em periódico	Evidence that oxidative stress is increased in patients with X-linked adrenoleukodystrophy. C R VARGAS; Moacir WAJNER; L SIRTORI; L GOULART; D COELHO et al Biochimica et Biophysica Acta. Molecular Basis of Disease DOI 10.1016/j.bbadis.2003.10.004 ISSN 0925-4439	HS Medicine (miscellaneous)
2004	Artigo em periódico	Development and testing of new screening method for keratan sulfate in mucopolysacharidosis IV A S TOMATSU; K OKAMURA; T TATEKANI; K O ORII; T NISHIOKA et al Pediatric Research DOI 10.1203/01.PDR.0000113767.60140.E9 ISSN 0031-3998	HS Pediatrics; Perinatology and Child Health
2004	Artigo em periódico	Biochemical study on beta-glucosidase in individuals with Gaucher`s disease and normal subjects. Kristiane MICHELIN; Alessandro WAJNER; L GOULART; Maria Luiza Saraiva PEREIRA; A MELLO et al Clinica Chimica Acta ISSN 0009-8981	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2004	Artigo em periódico	Newborn screening for congenital infectious diseases E Camargo NETO; R RUBIM; J SCHULTE; Roberto GIUGLIANI Emerging Infectious Diseases ISSN 1080-6040	HS Medicine (miscellaneous)
2004	Artigo em periódico	Newborn screening for biotinidase deficience in Brazil: biochemical and molecular charactyerizations. E C NETO; J SCHULTE; R RUBIM; E LEWIS; Jurema Fátima De MARI et al Brazilian Journal of Medical and Biological Research ISSN 0100-879X	HS Medicine (miscellaneous)
2004	Artigo em periódico	CNS involvement in Fabry`s disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy L JARDIM; L VEDOLIN; Ida Vanessa SCHWARTZ; M G BURIN; C CECCHIN et al Journal of Inherited Metabolic Disease ISSN 0141-8955	LS Genetics
2004	Artigo em periódico	Metabolic effects and methylenetetrahydrofolate reductase (MTHFR) polymorphism associated with neural tube defects in southern Brazil. T M FELIX; Sandra Leistner SEGAL; Roberto GIUGLIANI Birth Defects Clinical And Molecular Teratology	HS Genetics (clinical)
2004	Artigo em periódico	Allelic heterogenetty in the COH1 gene explains clinical variability in Cohen syndrome. H C HENNIES; A RAUCH; W SEIFERT; C SCHUMI; E MOSER et al American Journal of Human Genetics ISSN 0002-9297	HS Genetics (clinical)
2004	Artigo em periódico	Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI Ana Cecília AZEVEDO; Ida Vanessa SCHWARTZ; L KALAKUN; S BRUSTOLIN; M BURIN et al Clinical Genetics DOI 10.1111/j.1399-0004.2004.00277.x ISSN 0009-9163	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2004	Artigo em periódico	Investigation of lysosomal storage diseases in nonimmune hydrops fetalis M G BURIN; A P SCHOLZ; R GUS; M T SANSEVERINO; J A MAGALHÃES et al Prenatal Diagnosis DOI 10.1002/pd.967 ISSN 0197-3851	HS Obstetrics and Gynecology
2004	Artigo em periódico	Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann-Pick diseases Alessandro WAJNER; Kristiane MICHELIN; M BURIN; R F PIRES; Maria Luiza Saraiva PEREIRA et al Clinical Biochemistry DOI 10.1016/j.cccn.2004.01.010 ISSN 0009-9120	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2004	Artigo em periódico	Specificity and sensitivity of S100B levels in amniotic fluid for Down Syndrome diagnosis A B L TORT; L V C PORTELA; M P TAVARES; C A GONÇALVES; Cristina Brinckmann De Oliveira NETTO et al Life Sciences DOI 10.1016/j.lfs.2004.09.003 ISSN 0024-3205	HS Embryology

2004 Trabalho em evento

HS Radiology; Nuclear Medicine and Imaging

RADIOLOGIC MANIFESTATIONS OF 5 BRAZILIAN CASES OF MUCOPOLYSACCHARIDOSIS VI (MAROTEUAX-LAMY SYNDROME)