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
2009	Artigo em periódico	Infantile sutism and 47; XYY karyotype E KUCZYSNSKI; Debora Romeo BERTOLA; C I E CASTRO; Celia P KOIFFMANN; Chong Ae KIM Arquivos de Neuro-Psiquiatria (Impresso) ISSN 0004-282X	LS Neurology
2009	Artigo em periódico	Basic evaluation of the Immune Competence of Brazilian `Patients with Kabuki Syndrome Nathan E FRENK; Chong Ae KIM; Noemie M ORII; Dewton M VASCONCELOS; Magda Carneiro SAMPAIO Pediatria (São Paulo) ISSN 0101-3858	HS Genetics (clinical)
2009	Artigo em periódico	Chromosomal imbalances in syndromic hearing loss. A L CATALLANI; A C Krepischi SANTOS; Chong Ae KIM; F KOK; P A OTTO et al Clinical Genetics ISSN 0009-9163	HS Medicine (miscellaneous)
2009	Artigo em periódico	Clinical and biochemical studies in mucopolysaccharidosis type II carriers. I V SCHWARTZ; L L PINTO; G BREDA; L LIMA; M RIBEIRO et al Journal of Inherited Metabolic Disease ISSN 0141-8955	HS Biochemistry (medical)
2009	Artigo em periódico	Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia C S D ANGELO; I KOHL; M C VARELA; C I E CASTRO; Chong Ae KIM et al American Journal of Medical Genetics. Part A ISSN 1552-4825	LS Genetics
2009	Artigo em periódico	Expanding CEP 290 mutacional spectrum in ciliopathies Lorena TRAVAGIU; Francesco BRANCATI; Tana Attie BITACHI; Sophie AUDOLLENT; Enrico BERTINI et al American Journal of Medical Genetics. Part A ISSN 1552-4825	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2008	Capítulo de livro	Baixa estatura por aberrações cromossômicas; doenças gênicas e displasias esqueléticas Chong Ae KIM; L M J ALBANO; D R BERTOLA Diagnóstico Diferencial em Pediatria ISBN 9788527713962	LS Genetics
2008	Capítulo de livro	Doenças Genéticas em Pediatria Chong Ae KIM; L M J ALBANO; Debora Romeo BERTOLA; M F BARBA Atlas de Imaginologia Pediátrica	HS Pediatrics; Perinatology and Child Health
2008	Capítulo de livro	Síndromes Genéticas e Cardiopatia Debora Romeo BERTOLA; L M J ALBANO; Chong Ae KIM Bases Moleculares das Doenças Cardiovasculares ISBN 9788573799798	HS Medicine (miscellaneous)
2008	Trabalho em evento	Síndrome de ARC-Relato de dois casos Isabel Mosca FURQUIM; Rachel Sayuri HONJO; G PORTA; D R BERTOLA; L M J ALBANO et al XX Congresso Brasileiro de Genética Médica	SH Psychology (miscellaneous)
2008	Trabalho em evento	Experiência da Terapia de Reposição Enzimática na Mucopolissacaridose tipo I Ana Carolina PAULA; Rachel Sayuri HONJO; V A G LEVYMAN; G N LEAL; D R BERTOLA et al XX Congresso Brasileiro de Genética Médica	HS Medicine (miscellaneous)
2008	Trabalho em evento	Duplicação do gene KCNQ1 (11p15) em uma família com quatro afetados pela síndrome de Silver-Roussell Rachel Sayuri HONJO; Juliana MAZZEU; A BONALDI; Isabel Mosca FURQUIM; D R BERTOLA et al XX Congresso Brasileiro de Genética Médica	LS Genetics
2008	Trabalho em evento	Brachyolmia with amelogenesis imperfecta:further evidence of a single entity. D R BERTOLA; Reynaldo ANTEQUERA; Maria Juliana Rodovalho DORIQUI; Rachel Sayuri HONJO; L M J ALBANO et al 58th Annual Meeting of the American Society of Human Genetics	HS Medicine (miscellaneous)
2008	Trabalho em evento	ARC syndrome: Two case reports Isabel Mosca FURQUIM; Rachel Sayuri HONJO; G PORTA; A P R HIRSCHFELD; J R VASCONCELOS et al 58th Annual Meeting of the American Society of Human Genetics	LS Neuroscience (miscellaneous)
2008	Trabalho em evento	Follow-up of 22 Prader-Willi syndrome patients L M J ALBANO; C R S SILVA; M C VARELA; C P KOIFFMAN; D R BERTOLA et al 58th Annual meeting of the American Society of Human Genetics	HS Neurology (clinical)
2008	Trabalho em evento	Duplication restricted to ICR2 (KCNQ1; KCNQ1OT1 at 11p15 segregating in a familly with five children affected by Silver-Russell syndrome and CDKN1C genes) A M Vianna MORGANTE; A BONALDI; Rachel Sayuri HONJO; D R BERTOLA; L M J ALBANO et al 58th Annual Meeting of the American Society of Human Genetics	LS Genetics
2008	Trabalho em evento	MPS-Brazil Network: 4 years improving diagnosis and management of mucopolysaccharidoses in Brazil I SCHWARTZ; R GIUGLIANI; A FEDERHEN; L PINTO; S LEISTNER et al 58th Annual meeting of the American Society of Human Genetics	HS Medicine (miscellaneous)
2008	Trabalho em evento	Duplication restricted to ICR2(KCNQ1; KCNQ1OT1 and CDKN1C genes)at 11p15 segregating in a familly with five children affected by Silver-Russell syndrome. A M MORGANTE; A BONALDI; Rachel Sayuri HONJO; Debora Romeo BERTOLA; L M J ALBANO et al 58th Annual Meeting of the American Society of Human Genetics	LS Genetics
2008	Trabalho em evento	MPS-Brazil Network (2004-2008) 4 Years Improving The Diagnosis And Management Of Mucopolysaccharidoses in Brazil I V SCHWARTZ; A FEDERHEN; R SILVA; D GARCIA; T MARTINS et al II Congresso Latino Americano de Enfermidades Lisossômicas (COLATEL)	HS Genetics (clinical)
2008	Artigo em periódico	Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy Chong Ae KIM; M DELÉPINE; E BOUTET; H El MOURABIT; S Le LAY et al The Journal of Clinical Endocrinology and Metabolism ISSN 0021-972X	HS Endocrinology; Diabetes and Metabolism
2008	Artigo em periódico	Genomic imbalances associated with Mullerian aplasia C CHEROKI; A C Krepischi SANTOS; K SZUNAI; V BRENNER; Chong Ae KIM et al Journal of Medical Genetics ISSN 0022-2593	LS Genetics
2008	Artigo em periódico	Mucopolysaccharidoses in Brazil:What happens from Birth to Biochemical Diagnosis? T A VIEIRA; I V SCHWARTZ; M V MUNOZ; L PINTO; C E STEINER et al American Journal of Medical Genetics. Part A ISSN 1552-4825	HS Genetics (clinical)
2008	Artigo em periódico	A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin Chong Ae KIM; Rachel Sayuri HONJO; D R BERTOLA; L M J ALBANO; L A N OLIVEIRA et al Genetic Testing ISSN 1090-6576	LS Genetics
2008	Artigo em periódico	High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined apprach of microsatellite segregation analysis; multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation F S JEHEE; A C Krepischi SANTOS; K M ROCHA; D P CAVALCANTI; Chong Ae KIM et al Journal of Medical Genetics ISSN 0022-2593	HS Radiology; Nuclear Medicine and Imaging
2008	Artigo em periódico	RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. F BRANCATI; L TRAVAGLINI; D ZABLOCKA; P ACCORSI; G MONTAGNA et al Clinical Genetics ISSN 0009-9163	HS Medicine (miscellaneous)

2009 Artigo em periódico

LS Neurology

Infantile sutism and 47; XYY karyotype

Arquivos de Neuro-Psiquiatria (Impresso)

E KUCZYSNSKI; Debora Romeo BERTOLA; C I E CASTRO; Celia P KOIFFMANN; Chong Ae KIM

ISSN 0004-282X

2009 Artigo em periódico

HS Genetics (clinical)

Basic evaluation of the Immune Competence of Brazilian `Patients with Kabuki Syndrome

Pediatria (São Paulo)

Nathan E FRENK; Chong Ae KIM; Noemie M ORII; Dewton M VASCONCELOS; Magda Carneiro SAMPAIO

ISSN 0101-3858

2009 Artigo em periódico

HS Medicine (miscellaneous)

Chromosomal imbalances in syndromic hearing loss.

Clinical Genetics

A L CATALLANI; A C Krepischi SANTOS; Chong Ae KIM; F KOK; P A OTTO et al

ISSN 0009-9163

2009 Artigo em periódico

HS Biochemistry (medical)

Clinical and biochemical studies in mucopolysaccharidosis type II carriers.

Journal of Inherited Metabolic Disease

I V SCHWARTZ; L L PINTO; G BREDA; L LIMA; M RIBEIRO et al

ISSN 0141-8955

2009 Artigo em periódico

LS Genetics

Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia

American Journal of Medical Genetics. Part A

C S D ANGELO; I KOHL; M C VARELA; C I E CASTRO; Chong Ae KIM et al

ISSN 1552-4825

2009 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Expanding CEP 290 mutacional spectrum in ciliopathies

American Journal of Medical Genetics. Part A

Lorena TRAVAGIU; Francesco BRANCATI; Tana Attie BITACHI; Sophie AUDOLLENT; Enrico BERTINI et al

ISSN 1552-4825

2008 Capítulo de livro

LS Genetics

Baixa estatura por aberrações cromossômicas; doenças gênicas e displasias esqueléticas

Diagnóstico Diferencial em Pediatria

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

ISBN 9788527713962

2008 Capítulo de livro

HS Pediatrics; Perinatology and Child Health

Doenças Genéticas em Pediatria

Atlas de Imaginologia Pediátrica

Chong Ae KIM; L M J ALBANO; Debora Romeo BERTOLA; M F BARBA

2008 Capítulo de livro

HS Medicine (miscellaneous)

Síndromes Genéticas e Cardiopatia

Bases Moleculares das Doenças Cardiovasculares

Debora Romeo BERTOLA; L M J ALBANO; Chong Ae KIM

ISBN 9788573799798

2008 Trabalho em evento

SH Psychology (miscellaneous)

Síndrome de ARC-Relato de dois casos

XX Congresso Brasileiro de Genética Médica

Isabel Mosca FURQUIM; Rachel Sayuri HONJO; G PORTA; D R BERTOLA; L M J ALBANO et al

2008 Trabalho em evento

HS Medicine (miscellaneous)

Experiência da Terapia de Reposição Enzimática na Mucopolissacaridose tipo I

XX Congresso Brasileiro de Genética Médica

Ana Carolina PAULA; Rachel Sayuri HONJO; V A G LEVYMAN; G N LEAL; D R BERTOLA et al

2008 Trabalho em evento

LS Genetics

Duplicação do gene KCNQ1 (11p15) em uma família com quatro afetados pela síndrome de Silver-Roussell

XX Congresso Brasileiro de Genética Médica

Rachel Sayuri HONJO; Juliana MAZZEU; A BONALDI; Isabel Mosca FURQUIM; D R BERTOLA et al

2008 Trabalho em evento

HS Medicine (miscellaneous)

Brachyolmia with amelogenesis imperfecta:further evidence of a single entity.

58th Annual Meeting of the American Society of Human Genetics

D R BERTOLA; Reynaldo ANTEQUERA; Maria Juliana Rodovalho DORIQUI; Rachel Sayuri HONJO; L M J ALBANO et al

2008 Trabalho em evento

LS Neuroscience (miscellaneous)

ARC syndrome: Two case reports

58th Annual Meeting of the American Society of Human Genetics

Isabel Mosca FURQUIM; Rachel Sayuri HONJO; G PORTA; A P R HIRSCHFELD; J R VASCONCELOS et al

2008 Trabalho em evento

HS Neurology (clinical)

Follow-up of 22 Prader-Willi syndrome patients

58th Annual meeting of the American Society of Human Genetics

L M J ALBANO; C R S SILVA; M C VARELA; C P KOIFFMAN; D R BERTOLA et al

2008 Trabalho em evento

LS Genetics

Duplication restricted to ICR2 (KCNQ1; KCNQ1OT1 at 11p15 segregating in a familly with five children affected by Silver-Russell syndrome and CDKN1C genes)

58th Annual Meeting of the American Society of Human Genetics

A M Vianna MORGANTE; A BONALDI; Rachel Sayuri HONJO; D R BERTOLA; L M J ALBANO et al

2008 Trabalho em evento

HS Medicine (miscellaneous)

MPS-Brazil Network: 4 years improving diagnosis and management of mucopolysaccharidoses in Brazil

58th Annual meeting of the American Society of Human Genetics

I SCHWARTZ; R GIUGLIANI; A FEDERHEN; L PINTO; S LEISTNER et al

2008 Trabalho em evento

LS Genetics

Duplication restricted to ICR2(KCNQ1; KCNQ1OT1 and CDKN1C genes)at 11p15 segregating in a familly with five children affected by Silver-Russell syndrome.

58th Annual Meeting of the American Society of Human Genetics

A M MORGANTE; A BONALDI; Rachel Sayuri HONJO; Debora Romeo BERTOLA; L M J ALBANO et al

2008 Trabalho em evento

HS Genetics (clinical)

MPS-Brazil Network (2004-2008) 4 Years Improving The Diagnosis And Management Of Mucopolysaccharidoses in Brazil

II Congresso Latino Americano de Enfermidades Lisossômicas (COLATEL)

I V SCHWARTZ; A FEDERHEN; R SILVA; D GARCIA; T MARTINS et al

2008 Artigo em periódico

HS Endocrinology; Diabetes and Metabolism

Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy

The Journal of Clinical Endocrinology and Metabolism

Chong Ae KIM; M DELÉPINE; E BOUTET; H El MOURABIT; S Le LAY et al

ISSN 0021-972X

2008 Artigo em periódico

LS Genetics

Genomic imbalances associated with Mullerian aplasia

Journal of Medical Genetics

C CHEROKI; A C Krepischi SANTOS; K SZUNAI; V BRENNER; Chong Ae KIM et al

ISSN 0022-2593

2008 Artigo em periódico

HS Genetics (clinical)

Mucopolysaccharidoses in Brazil:What happens from Birth to Biochemical Diagnosis?

American Journal of Medical Genetics. Part A

T A VIEIRA; I V SCHWARTZ; M V MUNOZ; L PINTO; C E STEINER et al

ISSN 1552-4825

2008 Artigo em periódico

LS Genetics

A known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin

Genetic Testing

Chong Ae KIM; Rachel Sayuri HONJO; D R BERTOLA; L M J ALBANO; L A N OLIVEIRA et al

ISSN 1090-6576

2008 Artigo em periódico

HS Radiology; Nuclear Medicine and Imaging

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined apprach of microsatellite segregation analysis; multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation

Journal of Medical Genetics

F S JEHEE; A C Krepischi SANTOS; K M ROCHA; D P CAVALCANTI; Chong Ae KIM et al

ISSN 0022-2593

2008 Artigo em periódico

HS Medicine (miscellaneous)

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

Clinical Genetics

F BRANCATI; L TRAVAGLINI; D ZABLOCKA; P ACCORSI; G MONTAGNA et al

ISSN 0009-9163