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
2017	Capítulo de livro	Hand defects and the eye Luis Carlos Ferreira De SÁ; Chong Ae KIM Taylor & Hoyt´s Pediatric Ophthalmology and Strabismus ISBN 9780702066160	HS Pediatrics; Perinatology and Child Health
2017	Capítulo de livro	Deleção do braço curto do cromossomo 5 Chong Ae KIM Compêndio de Doenças Raras ISBN 9788568038017	LS Genetics
2017	Capítulo de livro	CHARGE Chong Ae KIM; Albano Lilian Maria JOSÉ Compêndio de Doenças Raras ISBN 9788568038017	HS Medicine (miscellaneous)
2017	Capítulo de livro	Síndrome de Williams Chong Ae KIM; Honjo Rachel SAYURI Compêndio de Doenças Raras ISBN 9788568038017	HS Medicine (miscellaneous)
2017	Capítulo de livro	Displasias esqueléticas Chong Ae KIM; Bertola Débora R; Albano Lilian Maria JOSÉ Tratado de Radiologia ISBN 9788520451441	HS Radiology; Nuclear Medicine and Imaging
2017	Capítulo de livro	Principais Doenças Genéticas com Envolvimento do Aparelho Auditivo Chong Ae KIM; Albano Lilian Maria JOSÉ; Honjo Rachel SAYURI XV Manual de Otorrinolaringologia Pediátrica da IAPO ISBN 9788560209330	HS Medicine (miscellaneous)
2017	Trabalho em evento	22q11.2 deletion influences expression levels of hemizygous and normal copy number genes: possible disruption of cis and trans regulation Anelisa Gollo DANTAS; Marcos L SANTORO; Chong Ae KIM; D C SOARES; V A MELONI et al European Human Genetics Conference	LS Genetics
2017	Trabalho em evento	Lymphoproliferative Disorde with Hypogammaglobulinemia:An Unsual Presentation of 22q11.2 deletion syndrome Diogo C SOARES; Evelyn C NUNEZ; Cristiane J SANTOS; Antonio C PASTORINO; Anelisa G DANTAS et al Latin America Society for Immunodeficiencise Meeting (LASID)	LS Genetics
2017	Trabalho em evento	Deletion; duplication and ring of chromosome 13 due to different rearrangements and implication to phenotype R S GUILHERME; H R De Oliveira JÚNIOR; S BRAGAGNOLO; M A RAMOS; A B PEREZ et al European Society of Human Genetics 2017	LS Genetics
2017	Trabalho em evento	Neonatal form with severe cardiac manifestation in an infant with rapidly progressing Phenotype of mucopolysaccharidosis type VI Cristina Nunez VACA; Sofia Ortiz SALDANA; Diana Salazar BERMEOS; Santiago Estreela BENAVIDES; Gustavo Marquezani SPOLADOR et al 13th International Congress of Inborn Errors of Metabolism (ICIEM)	HS Pediatrics; Perinatology and Child Health
2017	Trabalho em evento	Early Diagnosis of Rivoflavin Transporte Deficiency and Therapeutic Management -A Case Report Gustavo M SPOLADOR; Sofia O SALDANA; Diana S BERMEO; Cristina N VACA; Santiago E BENAVIDES et al 13th International Congress of Inborn Errors of Metabolism (ICIEM)	HS Genetics (clinical)
2017	Trabalho em evento	Mevalonate Kinase Deficiency Syndrome: A Case Report Sofia O SALDANA; Diana S BERMEO; Rachel S HONJO; Cristina N VACA; Debora R BERTOLA et al 13th International Congress of Inborn Errors of Metabolism (ICIEM)	HS Genetics (clinical)
2017	Trabalho em evento	DOORS: A Dysmorphic and Syndromic Sensoneural Deafness Caused by 2-ketoglutarate Dehydrogenase Deficiency Holguer Santiago Estrella BENAVIDES; D R BERTOLA; C N VACA; R S HONJO; G L YAMAMOTO et al 13th International Congress of Inborn Errors of Metabolism (ICIEM)	LS Neurology
2017	Trabalho em evento	Cri du Chat syndrome: Characteristics of 69 Brazilian patients Chong Ae KIM; C B MELLO; L S E PIMENTA; L M BENEDETTO; E C N VACA et al ASHG 2017	HS Medicine (miscellaneous)
2017	Trabalho em evento	Small 17p13.3 suplication including BHLHA9 in a Brazilian familly with incomplete penetrance of split-hand/foot malformation W A R BARATELA; H HIJAZI; C M B CARVALHO; G L YAMAMOTO; S S COSTA et al ASHG 2017	LS Neurology
2017	Trabalho em evento	DNA methylation profiles in a cohort of Brazilian children with ADHD T V M M COSTA; F A MARCHI; C MILANI; J G DAMASCENO; F A R MADIA et al ASHG 2017	HS Genetics (clinical)
2017	Trabalho em evento	Post-mortem cytogenomic study of Brazilian patients reveals the CNVs connection to complex congenital heart defects. Far MADIA; A T DIAS; E A ZANARDO; J G DAMASCENO; M ROCHA et al ASHG 2017	HS Medicine (miscellaneous)
2017	Trabalho em evento	Breakpoint mapping in five Brazilian cases of distal 5p deletion:Influence of copy number variable regions and haploinsufficiency to clinical phenotype. S N CHEHIMI; E A ZANARDO; J R M CERONI; F A R MADIA; G M Novo FILHO et al ASHG 2017	LS Neuroscience (miscellaneous)
2017	Trabalho em evento	CNVs from whole exome sequencing and array: First comparative study in a Brazilian clinical cohort. E A ZANARDO; G M Novo FILHO; M M MONTENEGRO; A S BRASIL; S N CHEHIMI et al ASHG 2017	LS Genetics
2017	Trabalho em evento	Small 17p13.3 duplication including BHLHA9 in a Brazilian family with incomplete penetrance of split-hand/foot malformation. W A R BARATELA; H HIJAZI; C M B CARVALHO; G L YAMAMOTO; S S COSTA et al ASHG 2017	LS Genetics
2017	Trabalho em evento	Cardiologic findings in 101 patients with Williams Syndrome Honjo R S; J R M CERONI; P H S CASTRO; J G SALOMAO; S P O SALDANA et al ASHG 2017	HS Medicine (miscellaneous)
2017	Trabalho em evento	Phenotypic and genotypic spectrum in Richieri-Costa-Pereira syndrome. Bertola D R; G HSIA; L ALVIZI; A GARDHAM; G L YAMAMOTO et al ASHG 2017	LS Genetics
2017	Trabalho em evento	Genomic approaches to investigate children born small for gestatioal age (SGA) without catch up-growth B L FREIRE; T K HOMMA; M FUNARI; A MALAQUIAS; R HONJO et al ASHG 2017	LS Genetics
2017	Trabalho em evento	Clinical and genetic characteristics of seven patients with Floating-Harbor syndrome P CASTRO; R HONJO; G LOPES; L ALBANO; S SUGAYAMA et al ASHG 2017	LS Genetics
2017	Trabalho em evento	Estuo de novos genes associados às rasopatias pelo sequenciamento de nova geração Julia G SALOMAO; Caroline OLIVATI; J R M CERONI; G L YAMAMOTO; R S HOMJO et al XXIX Congresso Brasileiro de Genética Médica	SH Education

2017 Capítulo de livro

HS Pediatrics; Perinatology and Child Health

Hand defects and the eye

Taylor & Hoyt´s Pediatric Ophthalmology and Strabismus

Luis Carlos Ferreira De SÁ; Chong Ae KIM

ISBN 9780702066160

2017 Capítulo de livro

LS Genetics

Deleção do braço curto do cromossomo 5

Compêndio de Doenças Raras

Chong Ae KIM

ISBN 9788568038017

2017 Capítulo de livro

HS Medicine (miscellaneous)

CHARGE

Compêndio de Doenças Raras

Chong Ae KIM; Albano Lilian Maria JOSÉ

ISBN 9788568038017

2017 Capítulo de livro

HS Medicine (miscellaneous)

Síndrome de Williams

Compêndio de Doenças Raras

Chong Ae KIM; Honjo Rachel SAYURI

ISBN 9788568038017

2017 Capítulo de livro

HS Radiology; Nuclear Medicine and Imaging

Displasias esqueléticas

Tratado de Radiologia

Chong Ae KIM; Bertola Débora R; Albano Lilian Maria JOSÉ

ISBN 9788520451441

2017 Capítulo de livro

HS Medicine (miscellaneous)

Principais Doenças Genéticas com Envolvimento do Aparelho Auditivo

XV Manual de Otorrinolaringologia Pediátrica da IAPO

Chong Ae KIM; Albano Lilian Maria JOSÉ; Honjo Rachel SAYURI

ISBN 9788560209330

2017 Trabalho em evento

LS Genetics

22q11.2 deletion influences expression levels of hemizygous and normal copy number genes: possible disruption of cis and trans regulation

European Human Genetics Conference

Anelisa Gollo DANTAS; Marcos L SANTORO; Chong Ae KIM; D C SOARES; V A MELONI et al

2017 Trabalho em evento

LS Genetics

Lymphoproliferative Disorde with Hypogammaglobulinemia:An Unsual Presentation of 22q11.2 deletion syndrome

Latin America Society for Immunodeficiencise Meeting (LASID)

Diogo C SOARES; Evelyn C NUNEZ; Cristiane J SANTOS; Antonio C PASTORINO; Anelisa G DANTAS et al

2017 Trabalho em evento

LS Genetics

Deletion; duplication and ring of chromosome 13 due to different rearrangements and implication to phenotype

European Society of Human Genetics 2017

R S GUILHERME; H R De Oliveira JÚNIOR; S BRAGAGNOLO; M A RAMOS; A B PEREZ et al

2017 Trabalho em evento

HS Pediatrics; Perinatology and Child Health

Neonatal form with severe cardiac manifestation in an infant with rapidly progressing Phenotype of mucopolysaccharidosis type VI

13th International Congress of Inborn Errors of Metabolism (ICIEM)

Cristina Nunez VACA; Sofia Ortiz SALDANA; Diana Salazar BERMEOS; Santiago Estreela BENAVIDES; Gustavo Marquezani SPOLADOR et al

2017 Trabalho em evento

HS Genetics (clinical)

Early Diagnosis of Rivoflavin Transporte Deficiency and Therapeutic Management -A Case Report

13th International Congress of Inborn Errors of Metabolism (ICIEM)

Gustavo M SPOLADOR; Sofia O SALDANA; Diana S BERMEO; Cristina N VACA; Santiago E BENAVIDES et al

2017 Trabalho em evento

HS Genetics (clinical)

Mevalonate Kinase Deficiency Syndrome: A Case Report

13th International Congress of Inborn Errors of Metabolism (ICIEM)

Sofia O SALDANA; Diana S BERMEO; Rachel S HONJO; Cristina N VACA; Debora R BERTOLA et al

2017 Trabalho em evento

LS Neurology

DOORS: A Dysmorphic and Syndromic Sensoneural Deafness Caused by 2-ketoglutarate Dehydrogenase Deficiency

13th International Congress of Inborn Errors of Metabolism (ICIEM)

Holguer Santiago Estrella BENAVIDES; D R BERTOLA; C N VACA; R S HONJO; G L YAMAMOTO et al

2017 Trabalho em evento

HS Medicine (miscellaneous)

Cri du Chat syndrome: Characteristics of 69 Brazilian patients

ASHG 2017

Chong Ae KIM; C B MELLO; L S E PIMENTA; L M BENEDETTO; E C N VACA et al

2017 Trabalho em evento

LS Neurology

Small 17p13.3 suplication including BHLHA9 in a Brazilian familly with incomplete penetrance of split-hand/foot malformation

ASHG 2017

W A R BARATELA; H HIJAZI; C M B CARVALHO; G L YAMAMOTO; S S COSTA et al

2017 Trabalho em evento

HS Genetics (clinical)

DNA methylation profiles in a cohort of Brazilian children with ADHD

ASHG 2017

T V M M COSTA; F A MARCHI; C MILANI; J G DAMASCENO; F A R MADIA et al

2017 Trabalho em evento

HS Medicine (miscellaneous)

Post-mortem cytogenomic study of Brazilian patients reveals the CNVs connection to complex congenital heart defects.

ASHG 2017

Far MADIA; A T DIAS; E A ZANARDO; J G DAMASCENO; M ROCHA et al

2017 Trabalho em evento

LS Neuroscience (miscellaneous)

Breakpoint mapping in five Brazilian cases of distal 5p deletion:Influence of copy number variable regions and haploinsufficiency to clinical phenotype.

ASHG 2017

S N CHEHIMI; E A ZANARDO; J R M CERONI; F A R MADIA; G M Novo FILHO et al

2017 Trabalho em evento

LS Genetics

CNVs from whole exome sequencing and array: First comparative study in a Brazilian clinical cohort.

ASHG 2017

E A ZANARDO; G M Novo FILHO; M M MONTENEGRO; A S BRASIL; S N CHEHIMI et al

2017 Trabalho em evento

LS Genetics

Small 17p13.3 duplication including BHLHA9 in a Brazilian family with incomplete penetrance of split-hand/foot malformation.

ASHG 2017

W A R BARATELA; H HIJAZI; C M B CARVALHO; G L YAMAMOTO; S S COSTA et al

2017 Trabalho em evento

HS Medicine (miscellaneous)

Cardiologic findings in 101 patients with Williams Syndrome

ASHG 2017

Honjo R S; J R M CERONI; P H S CASTRO; J G SALOMAO; S P O SALDANA et al

2017 Trabalho em evento

LS Genetics

Phenotypic and genotypic spectrum in Richieri-Costa-Pereira syndrome.

ASHG 2017

Bertola D R; G HSIA; L ALVIZI; A GARDHAM; G L YAMAMOTO et al

2017 Trabalho em evento

LS Genetics

Genomic approaches to investigate children born small for gestatioal age (SGA) without catch up-growth

ASHG 2017

B L FREIRE; T K HOMMA; M FUNARI; A MALAQUIAS; R HONJO et al

2017 Trabalho em evento

LS Genetics

Clinical and genetic characteristics of seven patients with Floating-Harbor syndrome

ASHG 2017

P CASTRO; R HONJO; G LOPES; L ALBANO; S SUGAYAMA et al

2017 Trabalho em evento

SH Education

Estuo de novos genes associados às rasopatias pelo sequenciamento de nova geração

XXIX Congresso Brasileiro de Genética Médica

Julia G SALOMAO; Caroline OLIVATI; J R M CERONI; G L YAMAMOTO; R S HOMJO et al