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
2013	Trabalho em evento	The role of genomic copy number variation (CNVs) in congenital heart disease G M Novo FILHO; E A ZANARDO; R L DUTRA; F B PIAZZON; A T DIAS et al 3a Reunião Brasileira de Citogenética e IV Simpósio Latino-Americano de Citogenética e Evolução	LS Genetics
2013	Trabalho em evento	Estudo Multicêntrico em Diagnóstico da Doença de Fabry em Registros de Biópsias de Angioqueratomas Samantha V KELMANN; C R D C QUAIO; Nilton S Rosa NETO; Charles Marques LOURENÇO; Rute LELLIS et al XXV Congresso Brasileiro de Genética Médica	HS Medicine (miscellaneous)
2013	Trabalho em evento	Detecção da Microdeleção 7q11.23 por MLPA e estudo Clínico de pacientes em síndrome de Williams-BeurenE Rachel S HONJO; Roberta L DUTRA; Leslie D KULIKOWSKI; Debora Romeo BERTOLA; Chong Ae KIM XXV Congresso Brasileiro de Genética Médica	HS Medicine (miscellaneous)
2013	Trabalho em evento	Estudo Multicêntrico de Diagnóstico Molecular por MLPA em pacientes com Múltiplas Anomalias Congênitas e Deficiência Intelectual Roberta L DUTRA; E A ZANARDO; G M Novo FILHO; M I MELARAGNO; Llerena Juan C et al XXV Congresso Brasileiro de Genética Médica	HS Medicine (miscellaneous)
2013	Trabalho em evento	Passos diretos para o diagnóstico genético: Diretrizes e algoritmo de investigação citogenômica em portadores de doenças raras. F B PIAZZON; A T DIAS; E A ZANARDO; R L DUTRA; M M MONTENEGRO et al XXV Congresso Brasileiro de Genética Médica	HS Genetics (clinical)
2013	Trabalho em evento	Humoral Immune Deficiency in Patient with Mucopolysaccharidoses Type IV Diogo Cordeiro De Queiroz SOARES; Chong Ae KIM; Leuridan Cavalcante TORRES IV International Symposium on Primary Immunodeficiencies	HS Genetics (clinical)
2013	Trabalho em evento	Cytogenomic diagnosis of congenital heart diseases Leslie Domenici KULIKOWSKI; Evelin Aline ZANARDO; Roberta Lelis DUTRA; Flavia Balbo PIAZZON; Alexandre Torchio DIAS et al 9th European Cytogenetics Conference	HS Cardiology and Cardiovascular Medicine
2013	Artigo em periódico	Assessment of intellectual and visuo-spatial abilities in children and adults with Williams syndrome Michele Moreira NUNES; Rachel Sayuri HONJO; Roberta Lelis DUTRA; Vera Alice S AMARAL; H K OH et al Universitas Psychologica ISSN 1657-9267	LS Neuroscience (miscellaneous)
2013	Artigo em periódico	Estresse em crianças e adolescentes com síndrome de Williams-Beuren no contexto escolar Vera Alice S AMARAL; Michele Moreira NUNES; R HONJO; Roberta Lelis DUTRA; Francisco Baptista Assumpção JÚNIOR et al Psicologia Escolar e Educacional (Impresso) ISSN 1413-8557	SH Psychology (miscellaneous)
2013	Artigo em periódico	A dominant ABCC8-related hyperinsulinism: familial case report M MOREIRA; F PIAZZON; D CARVALHO; C QUAIO; T Della MANNA et al Fetal and Pediatric Pathology ISSN 1551-3815	LS Neuroscience (miscellaneous)
2013	Artigo em periódico	Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation Debora Romeo BERTOLA; Melina G RODRIGUES; Caio R QUAIO; Chong Ae KIM; Maria Rita Passos BUENO American Journal of Medical Genetics. Part A DOI 10.1002/ajmg.a.35762 ISSN 1552-4825	LS Genetics
2013	Artigo em periódico	Obesity with associated developmental delay and/or learning disability in patients exibiting additional features: Report of novel pathogenic copy number variants. Carla S DÁNGELO; I KOHL; Monica C VARELA; Claudia De CASTRO; Chong Ae KIM et al American Journal of Medical Genetics. Part A DOI 10.1002/ajmg.a.35761 ISSN 1552-4825	LS Genetics
2013	Artigo em periódico	Advantages of early replacement therapy for mucopolysaccharidosis type VI:echocardiogrphic follow-up of sibilings Gabriela N LEAL; Ana C De PAULA; Samira S MORHY; José L ANDRADE; Chong Ae KIM Cardiology in the Young ISSN 1047-9511	HS Cardiology and Cardiovascular Medicine
2013	Artigo em periódico	A Novel Mutation in HPRT1 Gene Causing Variant Form of Lesch-Nyhan Disease Felippe BORLOT; L D KULIKOWSKI; Chong Ae KIM Pediatric Neurology DOI 10.1016/j.pediatrneurol.2013.03.012 ISSN 0887-8994	LS Genetics
2013	Artigo em periódico	The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Nikkel Sarah M; Chong Ae KIM; Dauber ANDREW; De Munnik SONJA; Connolly MEGHAN et al Orphanet Journal of Rare Diseases DOI 10.1186/1750-1172-8-63 ISSN 1750-1172	HS Genetics (clinical)
2013	Artigo em periódico	The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia Fonseca Ana CAROLINA; Bonaldi ADRIANO; Bertola Débora R; Chong Ae KIM; Otto Paulo A et al BMC Medical Genetics (Online) DOI 10.1186/1471-2350-14-50 ISSN 1471-2350	LS Neuroscience (miscellaneous)
2013	Artigo em periódico	Mucolipidoses II and III alpha/beta in Brazil: Analysis of the GNPTAB gene Cury G K; U MATTE; Artigalás O; Taciane ALEGRA; Velho R V et al Gene (Amsterdam) DOI 10.1016/j.gene.2013.03.105 ISSN 0378-1119	LS Genetics
2013	Artigo em periódico	Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI Horovitz Dafne D G; Magalhães Tatiana S P C; Acosta ANGELINA; Ribeiro Erlane M; Giuliani Liane R et al Molecular Genetics and Metabolism (Print) DOI 10.1016/j.ymgme.2013.02.014 ISSN 1096-7192	HS Pediatrics; Perinatology and Child Health
2013	Artigo em periódico	Ring chromosome 10: report on two patients and review of the literature Guilherme Roberta SANTOS; Chong Ae KIM; Alonso Luis GARCIA; Honjo Rachel S; Meloni Vera AYRES et al Journal of Applied Genetics DOI 10.1007/s13353-012-0128-7 ISSN 1234-1983	LS Genetics
2013	Artigo em periódico	Challenges in the Orthodontic Treatment of a patient with Pycnodysostosis M V ORTEGOSA; Debora Romeo BERTOLA; M AGUENA; Maria Rita Passos BUENO; Chong Ae KIM et al The Cleft Palate-Craniofacial Journal (Print) ISSN 1055-6656	HS Medicine (miscellaneous)
2013	Artigo em periódico	New insights in mucopolysaccharidosis type VI: Neurological perspective Ferlippe BORLOT; Paula ARANTES; Caio R QUAIO; Jose F Franco Da SILVA; Charles LOURENÇO et al Brain & Development (Tokyo. 1979) DOI 10.1016/j.braindev.2013.07.016 ISSN 0387-7604	HS Neurology (clinical)
2013	Artigo em periódico	Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18. A SPREIZ; R S GUILHERME; C CASTELLANE; A GREN; O RITTINGER et al The Journal of Pediatrics ISSN 0022-3476	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2013	Artigo em periódico	Tegumentary manifestations of Noonan and Noonan-related syndromes Quaio CR; Almeida TF; Brasil AS; Pereira AC; Jorge AA et al Clinics (USP. Impresso) DOI 10.6061/clinics/2013(08)03 ISSN 1807-5932	LS Neuroscience (miscellaneous)
2013	Artigo em periódico	Nager syndrome: report on 14 families and confirmation of haploinsufficiency as the major cause Petit FLORENCE; Escande FABIENNE; Jourdain Anne SOPHIE; Porchet NICOLE; Amiel JEANNE et al Clinical Genetics DOI 10.1111/cge.12259 ISSN 0009-9163	LS Genetics
2013	Artigo em periódico	Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilm´s tumor: two case reports M B MOREIRA; C R QUAIO; A C Zandoná TEIXEIRA; G M Novo FILHO; E A ZANARDO et al Journal of Medical Case Reports ISSN 1752-1947	LS Genetics

2013 Trabalho em evento

LS Genetics

The role of genomic copy number variation (CNVs) in congenital heart disease

3a Reunião Brasileira de Citogenética e IV Simpósio Latino-Americano de Citogenética e Evolução

G M Novo FILHO; E A ZANARDO; R L DUTRA; F B PIAZZON; A T DIAS et al

2013 Trabalho em evento

HS Medicine (miscellaneous)

Estudo Multicêntrico em Diagnóstico da Doença de Fabry em Registros de Biópsias de Angioqueratomas

XXV Congresso Brasileiro de Genética Médica

Samantha V KELMANN; C R D C QUAIO; Nilton S Rosa NETO; Charles Marques LOURENÇO; Rute LELLIS et al

2013 Trabalho em evento

HS Medicine (miscellaneous)

Detecção da Microdeleção 7q11.23 por MLPA e estudo Clínico de pacientes em síndrome de Williams-BeurenE

XXV Congresso Brasileiro de Genética Médica

Rachel S HONJO; Roberta L DUTRA; Leslie D KULIKOWSKI; Debora Romeo BERTOLA; Chong Ae KIM

2013 Trabalho em evento

HS Medicine (miscellaneous)

Estudo Multicêntrico de Diagnóstico Molecular por MLPA em pacientes com Múltiplas Anomalias Congênitas e Deficiência Intelectual

XXV Congresso Brasileiro de Genética Médica

Roberta L DUTRA; E A ZANARDO; G M Novo FILHO; M I MELARAGNO; Llerena Juan C et al

2013 Trabalho em evento

HS Genetics (clinical)

Passos diretos para o diagnóstico genético: Diretrizes e algoritmo de investigação citogenômica em portadores de doenças raras.

XXV Congresso Brasileiro de Genética Médica

F B PIAZZON; A T DIAS; E A ZANARDO; R L DUTRA; M M MONTENEGRO et al

2013 Trabalho em evento

HS Genetics (clinical)

Humoral Immune Deficiency in Patient with Mucopolysaccharidoses Type IV

IV International Symposium on Primary Immunodeficiencies

Diogo Cordeiro De Queiroz SOARES; Chong Ae KIM; Leuridan Cavalcante TORRES

2013 Trabalho em evento

HS Cardiology and Cardiovascular Medicine

Cytogenomic diagnosis of congenital heart diseases

9th European Cytogenetics Conference

Leslie Domenici KULIKOWSKI; Evelin Aline ZANARDO; Roberta Lelis DUTRA; Flavia Balbo PIAZZON; Alexandre Torchio DIAS et al

2013 Artigo em periódico

LS Neuroscience (miscellaneous)

Assessment of intellectual and visuo-spatial abilities in children and adults with Williams syndrome

Universitas Psychologica

Michele Moreira NUNES; Rachel Sayuri HONJO; Roberta Lelis DUTRA; Vera Alice S AMARAL; H K OH et al

ISSN 1657-9267

2013 Artigo em periódico

SH Psychology (miscellaneous)

Estresse em crianças e adolescentes com síndrome de Williams-Beuren no contexto escolar

Psicologia Escolar e Educacional (Impresso)

Vera Alice S AMARAL; Michele Moreira NUNES; R HONJO; Roberta Lelis DUTRA; Francisco Baptista Assumpção JÚNIOR et al

ISSN 1413-8557

2013 Artigo em periódico

LS Neuroscience (miscellaneous)

A dominant ABCC8-related hyperinsulinism: familial case report

Fetal and Pediatric Pathology

M MOREIRA; F PIAZZON; D CARVALHO; C QUAIO; T Della MANNA et al

ISSN 1551-3815

2013 Artigo em periódico

LS Genetics

Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation

American Journal of Medical Genetics. Part A

Debora Romeo BERTOLA; Melina G RODRIGUES; Caio R QUAIO; Chong Ae KIM; Maria Rita Passos BUENO

DOI ISSN 1552-4825

2013 Artigo em periódico

LS Genetics

Obesity with associated developmental delay and/or learning disability in patients exibiting additional features: Report of novel pathogenic copy number variants.

American Journal of Medical Genetics. Part A

Carla S DÁNGELO; I KOHL; Monica C VARELA; Claudia De CASTRO; Chong Ae KIM et al

DOI ISSN 1552-4825

2013 Artigo em periódico

HS Cardiology and Cardiovascular Medicine

Advantages of early replacement therapy for mucopolysaccharidosis type VI:echocardiogrphic follow-up of sibilings

Cardiology in the Young

Gabriela N LEAL; Ana C De PAULA; Samira S MORHY; José L ANDRADE; Chong Ae KIM

ISSN 1047-9511

2013 Artigo em periódico

LS Genetics

A Novel Mutation in HPRT1 Gene Causing Variant Form of Lesch-Nyhan Disease

Pediatric Neurology

Felippe BORLOT; L D KULIKOWSKI; Chong Ae KIM

DOI ISSN 0887-8994

2013 Artigo em periódico

HS Genetics (clinical)

The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Orphanet Journal of Rare Diseases

Nikkel Sarah M; Chong Ae KIM; Dauber ANDREW; De Munnik SONJA; Connolly MEGHAN et al

DOI ISSN 1750-1172

2013 Artigo em periódico

LS Neuroscience (miscellaneous)

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia

BMC Medical Genetics (Online)

Fonseca Ana CAROLINA; Bonaldi ADRIANO; Bertola Débora R; Chong Ae KIM; Otto Paulo A et al

DOI ISSN 1471-2350

2013 Artigo em periódico

LS Genetics

Mucolipidoses II and III alpha/beta in Brazil: Analysis of the GNPTAB gene

Gene (Amsterdam)

Cury G K; U MATTE; Artigalás O; Taciane ALEGRA; Velho R V et al

DOI ISSN 0378-1119

2013 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI

Molecular Genetics and Metabolism (Print)

Horovitz Dafne D G; Magalhães Tatiana S P C; Acosta ANGELINA; Ribeiro Erlane M; Giuliani Liane R et al

DOI ISSN 1096-7192

2013 Artigo em periódico

LS Genetics

Ring chromosome 10: report on two patients and review of the literature

Journal of Applied Genetics

Guilherme Roberta SANTOS; Chong Ae KIM; Alonso Luis GARCIA; Honjo Rachel S; Meloni Vera AYRES et al

DOI ISSN 1234-1983

2013 Artigo em periódico

HS Medicine (miscellaneous)

Challenges in the Orthodontic Treatment of a patient with Pycnodysostosis

The Cleft Palate-Craniofacial Journal (Print)

M V ORTEGOSA; Debora Romeo BERTOLA; M AGUENA; Maria Rita Passos BUENO; Chong Ae KIM et al

ISSN 1055-6656

2013 Artigo em periódico

HS Neurology (clinical)

New insights in mucopolysaccharidosis type VI: Neurological perspective

Brain & Development (Tokyo. 1979)

Ferlippe BORLOT; Paula ARANTES; Caio R QUAIO; Jose F Franco Da SILVA; Charles LOURENÇO et al

DOI ISSN 0387-7604

2013 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18.

The Journal of Pediatrics

A SPREIZ; R S GUILHERME; C CASTELLANE; A GREN; O RITTINGER et al

ISSN 0022-3476

2013 Artigo em periódico

LS Neuroscience (miscellaneous)

Tegumentary manifestations of Noonan and Noonan-related syndromes

Clinics (USP. Impresso)

Quaio CR; Almeida TF; Brasil AS; Pereira AC; Jorge AA et al

DOI ISSN 1807-5932

2013 Artigo em periódico

LS Genetics

Nager syndrome: report on 14 families and confirmation of haploinsufficiency as the major cause

Clinical Genetics

Petit FLORENCE; Escande FABIENNE; Jourdain Anne SOPHIE; Porchet NICOLE; Amiel JEANNE et al

DOI ISSN 0009-9163

2013 Artigo em periódico

LS Genetics

Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilm´s tumor: two case reports

Journal of Medical Case Reports

M B MOREIRA; C R QUAIO; A C Zandoná TEIXEIRA; G M Novo FILHO; E A ZANARDO et al

ISSN 1752-1947