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
2015	Trabalho em evento	Ceratite herpetiforme e hiperqueratose palmoplantar: Alerta para o diagnóstico de Tirosinemia tipo II Diogo Cordeiro De Queiroz SOARES; Mariana Nascimento STROPARO; Yu C LIAN; Cristina Yuri TAKAKURA; Sabrina WOLF et al XXVII Congresso Brasileiro de Genética Médica	HS Genetics (clinical)
2015	Artigo em periódico	Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1</i> and literature review of the clinical features Ellaine Doris CARVALHO; Rachel S HONJO; Monize LAZER; Guilherme Lopes YAMAMOTO; Katia Rocha NASLAVISKY et al American Journal of Medical Genetics. Part A DOI 10.1002/ajmg.a.36789 ISSN 1552-4825	LS Genetics
2015	Artigo em periódico	Menkes disease: importance of diagnosis with molecular analysis in the neonatal period Larissa Athayde COSTA; Stephanie PEGLER; Rute LELIS; Vera J KREBS; Tim MORGAN et al Revista da Associação Médica Brasileira DOI 10.1590/1806-9282.61.05.407 ISSN 1806-9282	HS Pediatrics; Perinatology and Child Health
2015	Artigo em periódico	Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype F Sperb LUDWIG; T ALEGRA; R V VELHO; N LUDWIG; Chong Ae KIM et al Molecular Genetics and Metabolism Reports DOI 10.1016/j.ymgmr.2014.12.001 ISSN 2214-4269	HS Genetics (clinical)
2015	Artigo em periódico	Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in and an atypical paternal phenotype: Insights into genotype-phenotype correlation Bertola DR; Maria Rita Passos BUENO; Alexandre C PEREIRA; Chong Ae KIM; Tim MORGAN et al American Journal of Medical Genetics. Part A DOI 10.1002/ajmg.a.36981 ISSN 1552-4825	HS Genetics (clinical)
2015	Artigo em periódico	Mowat-Wilson syndrome: neurological and molecular study in seven patients Paz José Albino DA; Chong Ae KIM; Goossens MICHAEL; Giurgea IRINA; Marques Dias Maria JOAQUINA Arquivos de Neuro-Psiquiatria (Impresso) DOI 10.1590/0004-282X20140182 ISSN 0004-282X	HS Neurology (clinical)
2015	Artigo em periódico	Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome Guilherme Lopes YAMAMOTO; Meire AGUENA; Gos M; Hung C; Pilch J et al Journal of Medical Genetics (Print) DOI 10.1136/jmedgenet-2015-103018 ISSN 0022-2593	HS Medicine (miscellaneous)
2015	Artigo em periódico	Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries Kelmann Samantha VERNASCHI; Quaio Caio Robledo D Angioli COSTA; Honjo Rachel SAYURI; Debora Romeo BERTOLA; Rosa Neto Nilton SALLES et al International Journal of Dermatology DOI 10.1111/ijd.12713 ISSN 0011-9059	LS Clinical Biochemistry
2015	Artigo em periódico	Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA Larissa S A COSTA; A C Zandoná TEIXEIRA; Marilia M MONTENEGRO; Alexandre DIAS; Roberta Lelis DUTRA et al BIOMED RES INT DOI 10.1155/2015/903175 ISSN 2314-6133	HS Genetics (clinical)
2015	Artigo em periódico	Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome Costa Larissa Sampaio De ATHAYDE; Zandona Teixeira Aline C; Montenegro Marilia M; Dias Alexandre T; Dutra Roberta L et al Molecular Cytogenetics DOI 10.1186/s13039-015-0142-7 ISSN 1755-8166	HS Genetics (clinical)
2015	Artigo em periódico	Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior Roberta L DUTRA; Zanardo Evelin ALINE; Costa Thaís Virgínia Moura MACHADO; Montenegro Marília MOREIRA; Novo Filho Gil MONTEIRO et al American Journal of Medical Genetics. Part A DOI 10.1002/ajmg.a.37360 ISSN 1552-4825	LS Genetics
2015	Artigo em periódico	Intragenic Deletion in the LIFR</i></b> Gene in a Long-Term Survivor with St-ve-Wiedemann Syndrome Hatagami Marques J LIA; Lopes Yamamoto GUILHERME; De C Ssia Testai LARISSA; Da Costa Pereira ALEXANDRE; Chong Ae KIM et al Molecular Syndromology DOI 10.1159/000407418 ISSN 1661-8769	LS Genetics
2015	Artigo em periódico	Investigation of copy number variation in children with conotruncal heart defects Carla M CAMPOS; E A ZANARDO; R L DUTRA; Kulikowski Leslie D; Chong Ae KIM Arquivos Brasileiros de Cardiologia (Impresso) ISSN 0066-782X	HS Cardiology and Cardiovascular Medicine
2014	Capítulo de livro	Genética Médica Caio Robledo QUAIO; Chong Ae KIM Como Escolher a sua Residência Médica ISBN 9788567806082	HS Genetics (clinical)
2014	Trabalho em evento	Menkes disease: the importance of precise diagnosis with molecular analysis in neonatal period. Chong Ae KIM 64th American Society of Human Genetics	HS Pediatrics; Perinatology and Child Health
2014	Trabalho em evento	Use of MLPA of buccal smear for Pallister-Killian diagnosis. Chong Ae KIM 64th American Society of Human Genetics	HS Genetics (clinical)
2014	Trabalho em evento	Avaliação clínica e laboratorial de pacientes com mucopolissacaridose em terapia de reposição enzimática José FRANCO; Diogo Cordeiro De Queiroz SOARES; J Correa NETO; Gabriela N LEAL; Rachel Sayuri HONJO et al XXVI Congresso Brasileiro de Genética Médica	HS Genetics (clinical)
2014	Trabalho em evento	Displasia Imuno-Óssea de Schimke: Aspectos Clínicos e Moleculares de Duas Crianças Brasileiras Stephanie P PEGLER; Diogo Cordeiro De Queiroz SOARES; Larissa Athayde COSTA; Guilherme Lopes YAMAMOTO; Rachel Sayuri HONJO et al XXVI Congresso Brasileiro de Genética Médica	HS Medicine (miscellaneous)
2014	Trabalho em evento	Immunological abnormalities in a family with mucopolysaccharidosis type II with a de novo missense mutation in the iduronate 2-sulfatase gene Leuridan C TORRES; Diogo Cordeiro De Queiroz SOARES; José FRANCO; Chong Ae KIM 13th International MPS Symposium and Related Diseases	HS Genetics (clinical)
2014	Trabalho em evento	NK and B cell deficiency in a family with MPS type II with a de novo missense mutation in the IDS gene Diogo Cordeiro De Queiroz SOARES; Leuridan Cavalcante TORRES; Chong Ae KIM IV International Symposium on Primary Immunodeficiencies	LS Genetics
2014	Trabalho em evento	Copy Number Variation in Oculoauriculovertebral Spectrum M COLOVATI; S BRAGAGNOLO; R S GUILHERME; A G DANTAS; Chong Ae KIM et al ASHG	LS Animal Science and Zoology
2014	Trabalho em evento	Genotype-phenotype correlation in 12 patients with Oculoauriculovertebral spectrum S BRAGAGNOLO; M E S COLOVATI; R S GUILHERME; A G DANTAS; Chong Ae KIM et al ASHG	LS Genetics
2014	Trabalho em evento	Menkes disease: the importance of precise diagnosis with molecular analysis in neonatal period. Chong Ae KIM; L COSTA; S PEGLER; R LELIS; V KREBS et al ASHG	LS Molecular Biology
2014	Trabalho em evento	Transcriptome applied to a Bloom syndrome:Immunological insights M M MONTENEGRO; G M Novo FILHO; E A ZANARDO; R L DUTRA; A T DIAS et al ASHG	LS Immunology and Microbiology (miscellaneous)
2014	Trabalho em evento	DNA methylation profiles of ten patients with Attention Deficit Hyperactivity Disorder: a proof-of-principle study C MILANI; T V M M COSTA; M M MONTENEGRO; G M Novo FILHO; E A ZANARDO et al ASHG	LS Genetics

2015 Trabalho em evento

HS Genetics (clinical)

Ceratite herpetiforme e hiperqueratose palmoplantar: Alerta para o diagnóstico de Tirosinemia tipo II

XXVII Congresso Brasileiro de Genética Médica

Diogo Cordeiro De Queiroz SOARES; Mariana Nascimento STROPARO; Yu C LIAN; Cristina Yuri TAKAKURA; Sabrina WOLF et al

2015 Artigo em periódico

LS Genetics

Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1</i> and literature review of the clinical features

American Journal of Medical Genetics. Part A

Ellaine Doris CARVALHO; Rachel S HONJO; Monize LAZER; Guilherme Lopes YAMAMOTO; Katia Rocha NASLAVISKY et al

DOI ISSN 1552-4825

2015 Artigo em periódico

HS Pediatrics; Perinatology and Child Health

Menkes disease: importance of diagnosis with molecular analysis in the neonatal period

Revista da Associação Médica Brasileira

Larissa Athayde COSTA; Stephanie PEGLER; Rute LELIS; Vera J KREBS; Tim MORGAN et al

DOI ISSN 1806-9282

2015 Artigo em periódico

HS Genetics (clinical)

Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype

Molecular Genetics and Metabolism Reports

F Sperb LUDWIG; T ALEGRA; R V VELHO; N LUDWIG; Chong Ae KIM et al

DOI ISSN 2214-4269

2015 Artigo em periódico

HS Genetics (clinical)

Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in and an atypical paternal phenotype: Insights into genotype-phenotype correlation

American Journal of Medical Genetics. Part A

Bertola DR; Maria Rita Passos BUENO; Alexandre C PEREIRA; Chong Ae KIM; Tim MORGAN et al

DOI ISSN 1552-4825

2015 Artigo em periódico

HS Neurology (clinical)

Mowat-Wilson syndrome: neurological and molecular study in seven patients

Arquivos de Neuro-Psiquiatria (Impresso)

Paz José Albino DA; Chong Ae KIM; Goossens MICHAEL; Giurgea IRINA; Marques Dias Maria JOAQUINA

DOI ISSN 0004-282X

2015 Artigo em periódico

HS Medicine (miscellaneous)

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome

Journal of Medical Genetics (Print)

Guilherme Lopes YAMAMOTO; Meire AGUENA; Gos M; Hung C; Pilch J et al

DOI ISSN 0022-2593

2015 Artigo em periódico

LS Clinical Biochemistry

Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries

International Journal of Dermatology

Kelmann Samantha VERNASCHI; Quaio Caio Robledo D Angioli COSTA; Honjo Rachel SAYURI; Debora Romeo BERTOLA; Rosa Neto Nilton SALLES et al

DOI ISSN 0011-9059

2015 Artigo em periódico

HS Genetics (clinical)

Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA

BIOMED RES INT

Larissa S A COSTA; A C Zandoná TEIXEIRA; Marilia M MONTENEGRO; Alexandre DIAS; Roberta Lelis DUTRA et al

DOI ISSN 2314-6133

2015 Artigo em periódico

HS Genetics (clinical)

Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome

Molecular Cytogenetics

Costa Larissa Sampaio De ATHAYDE; Zandona Teixeira Aline C; Montenegro Marilia M; Dias Alexandre T; Dutra Roberta L et al

DOI ISSN 1755-8166

2015 Artigo em periódico

LS Genetics

Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior

American Journal of Medical Genetics. Part A

Roberta L DUTRA; Zanardo Evelin ALINE; Costa Thaís Virgínia Moura MACHADO; Montenegro Marília MOREIRA; Novo Filho Gil MONTEIRO et al

DOI ISSN 1552-4825

2015 Artigo em periódico

LS Genetics

Intragenic Deletion in the LIFR</i></b> Gene in a Long-Term Survivor with St-ve-Wiedemann Syndrome

Molecular Syndromology

Hatagami Marques J LIA; Lopes Yamamoto GUILHERME; De C Ssia Testai LARISSA; Da Costa Pereira ALEXANDRE; Chong Ae KIM et al

DOI ISSN 1661-8769

2015 Artigo em periódico

HS Cardiology and Cardiovascular Medicine

Investigation of copy number variation in children with conotruncal heart defects

Arquivos Brasileiros de Cardiologia (Impresso)

Carla M CAMPOS; E A ZANARDO; R L DUTRA; Kulikowski Leslie D; Chong Ae KIM

ISSN 0066-782X

2014 Capítulo de livro

HS Genetics (clinical)

Genética Médica

Como Escolher a sua Residência Médica

Caio Robledo QUAIO; Chong Ae KIM

ISBN 9788567806082

2014 Trabalho em evento

HS Pediatrics; Perinatology and Child Health

Menkes disease: the importance of precise diagnosis with molecular analysis in neonatal period.

64th American Society of Human Genetics

Chong Ae KIM

2014 Trabalho em evento

HS Genetics (clinical)

Use of MLPA of buccal smear for Pallister-Killian diagnosis.

64th American Society of Human Genetics

Chong Ae KIM

2014 Trabalho em evento

HS Genetics (clinical)

Avaliação clínica e laboratorial de pacientes com mucopolissacaridose em terapia de reposição enzimática

XXVI Congresso Brasileiro de Genética Médica

José FRANCO; Diogo Cordeiro De Queiroz SOARES; J Correa NETO; Gabriela N LEAL; Rachel Sayuri HONJO et al

2014 Trabalho em evento

HS Medicine (miscellaneous)

Displasia Imuno-Óssea de Schimke: Aspectos Clínicos e Moleculares de Duas Crianças Brasileiras

XXVI Congresso Brasileiro de Genética Médica

Stephanie P PEGLER; Diogo Cordeiro De Queiroz SOARES; Larissa Athayde COSTA; Guilherme Lopes YAMAMOTO; Rachel Sayuri HONJO et al

2014 Trabalho em evento

HS Genetics (clinical)

Immunological abnormalities in a family with mucopolysaccharidosis type II with a de novo missense mutation in the iduronate 2-sulfatase gene

13th International MPS Symposium and Related Diseases

Leuridan C TORRES; Diogo Cordeiro De Queiroz SOARES; José FRANCO; Chong Ae KIM

2014 Trabalho em evento

LS Genetics

NK and B cell deficiency in a family with MPS type II with a de novo missense mutation in the IDS gene

IV International Symposium on Primary Immunodeficiencies

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

2014 Trabalho em evento

LS Animal Science and Zoology

Copy Number Variation in Oculoauriculovertebral Spectrum

ASHG

M COLOVATI; S BRAGAGNOLO; R S GUILHERME; A G DANTAS; Chong Ae KIM et al

2014 Trabalho em evento

LS Genetics

Genotype-phenotype correlation in 12 patients with Oculoauriculovertebral spectrum

ASHG

S BRAGAGNOLO; M E S COLOVATI; R S GUILHERME; A G DANTAS; Chong Ae KIM et al

2014 Trabalho em evento

LS Molecular Biology

Menkes disease: the importance of precise diagnosis with molecular analysis in neonatal period.

ASHG

Chong Ae KIM; L COSTA; S PEGLER; R LELIS; V KREBS et al

2014 Trabalho em evento

LS Immunology and Microbiology (miscellaneous)

Transcriptome applied to a Bloom syndrome:Immunological insights

ASHG

M M MONTENEGRO; G M Novo FILHO; E A ZANARDO; R L DUTRA; A T DIAS et al

2014 Trabalho em evento

LS Genetics

DNA methylation profiles of ten patients with Attention Deficit Hyperactivity Disorder: a proof-of-principle study

ASHG

C MILANI; T V M M COSTA; M M MONTENEGRO; G M Novo FILHO; E A ZANARDO et al