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
2003	Trabalho em evento	CEREBRAL INVOLVEMENT IN MUCOPOLYSACCHARIDOSIS II: CORRELATION BETWEEN BRAIN MAGNETIC RESONANCE FINDINGS AND CLINICAL MANIFESTATIONS. Ida Vanessa SCHWARTZ; L VEDOLIN; L PINTO; F GONÇALVES; A PIRES et al 53RD ANNUAL MEETING FOR THE AMERICAN SOCIETY OF HUMAN GENETICS	HS Medicine (miscellaneous)
2003	Trabalho em evento	CLINICAL STUDY OF 10 BRAZILIAN CASES OF MUCOPOLYSACCHARIDOSIS VI (MAROTEAUX-LAMY SYNDROME) C A KIM; A C PAULA; D R BERTOLA; L TOMA; Roberto GIUGLIANI et al 53RD ANNUAL MEETING FOR THE AMERICAN SOCIETY OF HUMAN GENETICS	HS Genetics (clinical)
2003	Trabalho em evento	A PHASE II OPEN-LABEL CLINICAL STUDY OF EFFICACY AND SAFETY OF RECOMBINANT HUMAN N-ACETYLGALACTOSAMINE 4-SULFATASE (rhASB) ENZYME REPLACEMENT THERAPY IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS VI (MAROTEAUX-LAMY SYNDROME) P HARMATZ; D KETTERIDGE; R STEINER; J SIMON; J WATERSON et al 53RD ANNUAL MEETING FOR THE AMERICAN SOCIETY OF HUMAN GENETICS	LS Genetics
2003	Trabalho em evento	AVALIAÇÃO EPIDEMIOLÓGICA DA TRIAGEM NEONATAL PARA FENILCETONÚRIA NO RIO GRANDE DO SUL - 1986-2002: UM ESTUDO DE COORTE S M KARAM; Roberto GIUGLIANI; L B JARDIM II CONGRESSO BRASILEIRO DE TRIAGEM NEONATAL E I CONGRESSO MINEIRO DE TRIAGEM NEONATAL	HS Medicine (miscellaneous)
2003	Trabalho em evento	THE COMMON DELETION OF CLN3 GENE AMONG BRAZILIAN PATIENTS WITH NCL M TSAO; Ursula MATTE; M BURIN; E BELARMINO; Roberto GIUGLIANI et al JORNADAS LIPOFUSCINOSIS NEURONAL CEROIDEA	LS Genetics
2003	Trabalho em evento	ULTRASTRUCTURAL ANALYSES IN A CASE SERIES OF PROGRESSIVE ENCEPHALOPATIES L B JARDIM; L CHIMELLI; M CLIVATI; S CARPENTER; H GOEBEL et al JORNADAS LIPOFUSCINOSIS NEURONAL CEROIDEA	LS Genetics
2003	Artigo em periódico	Searching for modulating effects of SCA2; SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype L JARDIM; I SILVEIRA; Maria Luiza Saraiva PEREIRA; M D MOREIRA; P MENDONÇA et al Acta Neurologica Scandinavica ISSN 0001-6314	LS Neuroscience (miscellaneous)
2003	Artigo em periódico	Application of a protocol for the detection of disorders of sialic acid metabolism to 124 high-risk brazilian patients C D CASTILHOS; A S MELLO; M G BURIN; R R GUIDOBONO; S GOTARDO et al American Journal of Medical Genetics ISSN 0148-7299	HS Genetics (clinical)
2003	Artigo em periódico	Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. Ursula MATTE; G YOGALINGAM; D BROOKS; Sandra Leistner SEGAL; Ida Vanessa SCHWARTZ et al Molecular Genetics and Metabolism ISSN 1096-7192	HS Genetics (clinical)
2003	Artigo em periódico	CFTR gene: molecular analysis in patients from South Brazil. C STREIT; Antonio Carlos Burlamaque NETO; Roberto GIUGLIANI; Maria Luiza Saraiva PEREIRA Molecular Genetics and Metabolism ISSN 1096-7192	LS Genetics
2003	Artigo em periódico	Molecular characterization of phenylketonuria in south Brazil. L C S SILVA; T S CARVALHO; F B SILVA; L MORARI; A A FACHEL et al Molecular Genetics and Metabolism ISSN 1096-7192	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2003	Artigo em periódico	Mucopolysaccharidosis VII: clinical; biochemical and molecular investigation of a Brazilian family. Ida Vanessa SCHWARTZ; L R SILVA; Sandra Leistner SEGAL; L A TODESCHINI; M G BURIN et al Clinical Genetics ISSN 0009-9163	LS Genetics
2003	Artigo em periódico	S100B protein and amniotic fluid A B TORT; C A GONÇALVES; D O SOUZA; Roberto GIUGLIANI; L PORTELA Clinica Chimica Acta ISSN 0009-8981	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2003	Artigo em periódico	Identification of a novel mutation in the ARSB gene. That is frequent among brazilian MPS VI patients. M F G PETRY; T DIETER; M BURIN; Roberto GIUGLIANI; Sandra Leistner SEGAL Genetic Testing ISSN 1090-6576	HS Genetics (clinical)
2003	Artigo em periódico	Nerve conduction studies; electromyography and sympathetic skin response in Fabry`s disease I GOMES; D B NORA; J BECKER; J A EHLERS; Ida Vanessa SCHWARTZ et al Journal of the Neurological Sciences ISSN 0022-510X	LS Neurology
2002	Capítulo de livro	A IMPORTÂNCIA DA GENÉTICA MÉDICA E DO ESTUDO DE DEFEITOS CONGÊNITOS Roberto GIUGLIANI TÓPICOS EM DEFEITOS CONGÊNITOS ISBN 8570256019	HS Medicine (miscellaneous)
2002	Capítulo de livro	OLIGOSACARIDOSIS Y MUCOLIPIDOSIS Ida Vanessa SCHWARTZ; C F M SOUZA; Roberto GIUGLIANI DIAGNÓSTICO Y TRATAMIENTO DE LAS ENFERMEDADES METABÓLICAS HEREDITÁRIAS ISBN 84-8473046	HS Endocrinology; Diabetes and Metabolism
2002	Capítulo de livro	A ANÁLISE BIOQUÍMICA DO PRODUTO GÊNICO PARA DIAGNÓSTICO; PROGNÓSTICO E TRATAMENTO DE DOENÇAS GENÉTICAS - IN PRESS Ida Vanessa SCHWARTZ; C F M SOUZA; Roberto GIUGLIANI CLÍNICA MÉDICA - MEDICINA CELULAR E MOLECULAR	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2002	Capítulo de livro	O TESTE DO PEZINHO Ida Vanessa SCHWARTZ; Roberto GIUGLIANI TRATADO DE PERINATOLOGIA	HS Reproductive Medicine
2002	Livro	TÓPICOS EM DEFEITOS CONGÊNITOS J C L LEITE; L N COMUNELLO; Roberto GIUGLIANI — ISBN 8570256019	HS Embryology
2002	Trabalho em evento	TYPE 1 GM1 GANGLIOSIDOSIS IN BRAZIL: EPIDEMIOLOGICAL AND MOLECULAR STUDIES. Ursula MATTE; C BAIOTTO; C SILVA; M H SEVERINI; Roberto GIUGLIANI XXXVIII CONFERÊNCIAS DE GENÉTICA NEW PERSPECTIVES IN LYSOSOMAL AND PEROXISOMAL DISORDERS	LS Genetics
2002	Trabalho em evento	A COMPREHENSIVE AND NATION-WIDE STUDY OF HUNTER´S DISEASE IN BRAZIL Ida Vanessa SCHWARTZ; Sandra Leistner SEGAL; T DIETER; L SCHERER; M BURIN et al XXXVIII CONFERÊNCIAS DE GENÉTICA NEW PERSPECTIVES IN LYSOSOMAL AND PEROXISOMAL DISORDERS	LS Immunology and Microbiology (miscellaneous)
2002	Trabalho em evento	MOLECULAR STUDIES IN BRAZILIAN MPS VI PATIENTS: IDENTIFICATION OF SEVERAL POLYMORPHISMS IN EXON 5 OF THE ARBS GENE M PETRY; T DIETER; Roberto GIUGLIANI; Sandra Leistner SEGAL XXXVIII CONFERÊNCIAS DE GENÉTICA NEW PERSPECTIVES IN LYSOSOMAL AND PEROXISOMAL DISORDERS	LS Genetics
2002	Trabalho em evento	GAUCHER DISEASE: AN INTEGRATED CLINICAL; BIOCHEMICAL AND MOLECULAR APPROACH TO BRAZILIAN PATIENTS. Maria Luiza Saraiva PEREIRA; Kristiane MICHELIN; L GOULART; L MORARI; Alessandro WAJNER et al XXXVIII CONFERÊNCIAS DE GENÉTICA NEW PERSPECTIVES IN LYSOSOMAL AND PEROXISOMAL DISORDERS	LS Genetics
2002	Trabalho em evento	MUTATION ANALYSIS IN SOUTH AMERICAN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE 1. Ursula MATTE; YOGALINGAM; D BROOKS; Sandra Leistner SEGAL; L LIMA et al XXXVIII CONFERÊNCIAS DE GENÉTICA NEW PERSPECTIVES IN LYSOSOMAL AND PEROXISOMAL DISORDERS	LS Genetics

2003 Trabalho em evento

HS Medicine (miscellaneous)

CEREBRAL INVOLVEMENT IN MUCOPOLYSACCHARIDOSIS II: CORRELATION BETWEEN BRAIN MAGNETIC RESONANCE FINDINGS AND CLINICAL MANIFESTATIONS.

53RD ANNUAL MEETING FOR THE AMERICAN SOCIETY OF HUMAN GENETICS

Ida Vanessa SCHWARTZ; L VEDOLIN; L PINTO; F GONÇALVES; A PIRES et al

2003 Trabalho em evento

HS Genetics (clinical)

CLINICAL STUDY OF 10 BRAZILIAN CASES OF MUCOPOLYSACCHARIDOSIS VI (MAROTEAUX-LAMY SYNDROME)

53RD ANNUAL MEETING FOR THE AMERICAN SOCIETY OF HUMAN GENETICS

C A KIM; A C PAULA; D R BERTOLA; L TOMA; Roberto GIUGLIANI et al

2003 Trabalho em evento

LS Genetics

A PHASE II OPEN-LABEL CLINICAL STUDY OF EFFICACY AND SAFETY OF RECOMBINANT HUMAN N-ACETYLGALACTOSAMINE 4-SULFATASE (rhASB) ENZYME REPLACEMENT THERAPY IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS VI (MAROTEAUX-LAMY SYNDROME)

53RD ANNUAL MEETING FOR THE AMERICAN SOCIETY OF HUMAN GENETICS

P HARMATZ; D KETTERIDGE; R STEINER; J SIMON; J WATERSON et al

2003 Trabalho em evento

HS Medicine (miscellaneous)

AVALIAÇÃO EPIDEMIOLÓGICA DA TRIAGEM NEONATAL PARA FENILCETONÚRIA NO RIO GRANDE DO SUL - 1986-2002: UM ESTUDO DE COORTE

II CONGRESSO BRASILEIRO DE TRIAGEM NEONATAL E I CONGRESSO MINEIRO DE TRIAGEM NEONATAL

S M KARAM; Roberto GIUGLIANI; L B JARDIM

2003 Trabalho em evento

LS Genetics

THE COMMON DELETION OF CLN3 GENE AMONG BRAZILIAN PATIENTS WITH NCL

JORNADAS LIPOFUSCINOSIS NEURONAL CEROIDEA

M TSAO; Ursula MATTE; M BURIN; E BELARMINO; Roberto GIUGLIANI et al

2003 Trabalho em evento

LS Genetics

ULTRASTRUCTURAL ANALYSES IN A CASE SERIES OF PROGRESSIVE ENCEPHALOPATIES

JORNADAS LIPOFUSCINOSIS NEURONAL CEROIDEA

L B JARDIM; L CHIMELLI; M CLIVATI; S CARPENTER; H GOEBEL et al

2003 Artigo em periódico

LS Neuroscience (miscellaneous)

Searching for modulating effects of SCA2; SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype

Acta Neurologica Scandinavica

L JARDIM; I SILVEIRA; Maria Luiza Saraiva PEREIRA; M D MOREIRA; P MENDONÇA et al

ISSN 0001-6314

2003 Artigo em periódico

HS Genetics (clinical)

Application of a protocol for the detection of disorders of sialic acid metabolism to 124 high-risk brazilian patients

American Journal of Medical Genetics

C D CASTILHOS; A S MELLO; M G BURIN; R R GUIDOBONO; S GOTARDO et al

ISSN 0148-7299

2003 Artigo em periódico

HS Genetics (clinical)

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

Molecular Genetics and Metabolism

Ursula MATTE; G YOGALINGAM; D BROOKS; Sandra Leistner SEGAL; Ida Vanessa SCHWARTZ et al

ISSN 1096-7192

2003 Artigo em periódico

LS Genetics

CFTR gene: molecular analysis in patients from South Brazil.

Molecular Genetics and Metabolism

C STREIT; Antonio Carlos Burlamaque NETO; Roberto GIUGLIANI; Maria Luiza Saraiva PEREIRA

ISSN 1096-7192

2003 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Molecular characterization of phenylketonuria in south Brazil.

Molecular Genetics and Metabolism

L C S SILVA; T S CARVALHO; F B SILVA; L MORARI; A A FACHEL et al

ISSN 1096-7192

2003 Artigo em periódico

LS Genetics

Mucopolysaccharidosis VII: clinical; biochemical and molecular investigation of a Brazilian family.

Clinical Genetics

Ida Vanessa SCHWARTZ; L R SILVA; Sandra Leistner SEGAL; L A TODESCHINI; M G BURIN et al

ISSN 0009-9163

2003 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

S100B protein and amniotic fluid

Clinica Chimica Acta

A B TORT; C A GONÇALVES; D O SOUZA; Roberto GIUGLIANI; L PORTELA

ISSN 0009-8981

2003 Artigo em periódico

HS Genetics (clinical)

Identification of a novel mutation in the ARSB gene. That is frequent among brazilian MPS VI patients.

Genetic Testing

M F G PETRY; T DIETER; M BURIN; Roberto GIUGLIANI; Sandra Leistner SEGAL

ISSN 1090-6576

2003 Artigo em periódico

LS Neurology

Nerve conduction studies; electromyography and sympathetic skin response in Fabry`s disease

Journal of the Neurological Sciences

I GOMES; D B NORA; J BECKER; J A EHLERS; Ida Vanessa SCHWARTZ et al

ISSN 0022-510X

2002 Capítulo de livro

HS Medicine (miscellaneous)

A IMPORTÂNCIA DA GENÉTICA MÉDICA E DO ESTUDO DE DEFEITOS CONGÊNITOS

TÓPICOS EM DEFEITOS CONGÊNITOS

Roberto GIUGLIANI

ISBN 8570256019

2002 Capítulo de livro

HS Endocrinology; Diabetes and Metabolism

OLIGOSACARIDOSIS Y MUCOLIPIDOSIS

DIAGNÓSTICO Y TRATAMIENTO DE LAS ENFERMEDADES METABÓLICAS HEREDITÁRIAS

Ida Vanessa SCHWARTZ; C F M SOUZA; Roberto GIUGLIANI

ISBN 84-8473046

2002 Capítulo de livro

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

A ANÁLISE BIOQUÍMICA DO PRODUTO GÊNICO PARA DIAGNÓSTICO; PROGNÓSTICO E TRATAMENTO DE DOENÇAS GENÉTICAS - IN PRESS

CLÍNICA MÉDICA - MEDICINA CELULAR E MOLECULAR

Ida Vanessa SCHWARTZ; C F M SOUZA; Roberto GIUGLIANI

2002 Capítulo de livro

HS Reproductive Medicine

O TESTE DO PEZINHO

TRATADO DE PERINATOLOGIA

Ida Vanessa SCHWARTZ; Roberto GIUGLIANI

2002 Livro

HS Embryology

TÓPICOS EM DEFEITOS CONGÊNITOS

—

J C L LEITE; L N COMUNELLO; Roberto GIUGLIANI

ISBN 8570256019

2002 Trabalho em evento

LS Genetics

TYPE 1 GM1 GANGLIOSIDOSIS IN BRAZIL: EPIDEMIOLOGICAL AND MOLECULAR STUDIES.