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
2014	Trabalho em evento	Estudo do fenétipo Neurocognitivo na síndrome de deleção 22q11.2: Desempenho Intelectual e Memória Operacional em uma Amostra Pediátrica Larissa Salustiano Evangelista PIMENTA; Kulikowski Leslie DOMENICI; Vera Freitas Aires MELONI; Claudia Berlim De MELLO; Orlando Francisco Amodeo BUENO et al V Reunião Anual do Instituto Brasileiro de Neuropsicologia e Comportamento e I Congresso Norte-Nordeste de Neurociências e Comportamento	LS Neuroscience (miscellaneous)
2014	Artigo em periódico	Case Report Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation Caio R QUAIO; Yu Kar Ling KODA; Debora R BERTOLA; Maja SUKALO; Martin ZENKER et al Genetics and Molecular Research DOI 10.4238/2014.june.9.2 ISSN 1676-5680	LS Genetics
2014	Artigo em periódico	Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy Guilherme Lopes YAMAMOTO; Wagner A R BARATELA; Tatiana F ALMEIDA; Monize LAZAR; Maria K O YAMADA et al American Journal of Human Genetics DOI 10.1016/j.ajhg.2013.11.022 ISSN 0002-9297	LS Genetics
2014	Artigo em periódico	Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement F BORLOT; P ARANTES; C QUAIO; José FRANCO; I GOMY et al American Journal of Medical Genetics. Part A DOI 10.1002/ajmg.a.36424 ISSN 1552-4825	LS Genetics
2014	Artigo em periódico	Clinical; cytogenetic; and molecular characterization of six patients with ring chromosomes 22; including one with concomitant 22q11.2 deletion Guilherme Roberta SANTOS; Soares Karina CUNHA; Simioni MILENA; Vieira Tarsis PAIVA; Gil Da Silva Lopes Vera LÚCIA et al American Journal of Medical Genetics. Part A DOI 10.1002/ajmg.a.36512 ISSN 1552-4825	LS Genetics
2014	Artigo em periódico	Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network Dornelles Alícia DORNELES; Pinto Louise Lapagesse De CAMARGO; Ana Carolina De PAULA; Steiner Carlos EDUARDO; Lourenço Charles MARQUES et al Genetics and Molecular Biology (Impresso) DOI 10.1590/s1415-47572014000100006 ISSN 1415-4757	HS Medicine (miscellaneous)
2014	Artigo em periódico	Remote spinal cord injury in mucopolysaccharidosis type IVA after cervical decompression Ferlippe BORLOT; P R ARANTES; Capel Cardoso A C; Chong Ae KIM Neurology (Cleveland; Ohio) DOI 10.1212/wnl.0000000000000341 ISSN 0028-3878	HS Neurology (clinical)
2014	Artigo em periódico	NK and B cell deficiency in a MPS type II with novel mutation in the IDS gene. Leuridan C TORRES; Diogo C SOARES; Leslie D KULIKOWSKI; Jose F Franco Da SILVA; Chong Ae KIM Clinical Immunology (Orlando; Fla. Print) DOI 10.1016/j.clim.2014.07.001 ISSN 1521-6616	HS Immunology and Allergy
2014	Artigo em periódico	Further evidence of the importance of in Noonan syndrome Bertola Débora R; Yamamoto Guilherme L; Almeida Tatiana F; Buscarilli MICHELLE; Jorge Alexander A L et al American Journal of Medical Genetics. Part A DOI 10.1002/ajmg.a.36722 ISSN 1552-4825	LS Genetics
2014	Artigo em periódico	LIPOID PROTEINOSIS: RARE CASE CONFIRMED BY ECM1 MUTATION DETECTION Tatiana F ALMEIDA; Diogo C Q SOARES; Quaio CR; Honjo Rachel S; D R BERTOLA et al International Journal of Pediatric Otorhinolaryngology (Print) DOI 10.1016/j.ijporl.2014.09.025 ISSN 0165-5876	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2014	Artigo em periódico	Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes D Angelo Carla S; Varela Monica C; De Castro Cláudia IE; Chong Ae KIM; Bertola Débora R et al Molecular Cytogenetics DOI 10.1186/s13039-014-0075-6 ISSN 1755-8166	HS Genetics (clinical)
2014	Artigo em periódico	Investigation of copy number variation in children with conotruncal heart defects Campos Carla Marques RONDON; Zanardo Evelin ALINE; Dutra Roberta LELIS; Kulikowski Leslie DOMENICI; Chong Ae KIM Arquivos Brasileiros de Cardiologia (Impresso) DOI 10.5935/abc.20140169 ISSN 0066-782X	SH Psychology (miscellaneous)
2014	Artigo em periódico	Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion M S GRASSI; C M JACOB; Kulikowski Leslie DOMENICI; A C PASTORINO; R L DUTRA et al Arquivos Brasileiros de Cardiologia (Impresso) DOI 10.5935/abc.20140145 ISSN 0066-782X	LS Genetics
2014	Artigo em periódico	Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome Zanardo Évelin ALINE; Piazzon Flavia BALBO; Dutra Roberta LELIS; Dias Alexandre TORCHIO; Montenegro Marília MOREIRA et al Molecular Genetics and Genomics (Print) DOI 10.1007/s00438-014-0876-7 ISSN 1617-4615	LS Genetics
2014	Artigo em periódico	Congenital genitourinary abnormalities in children with Williams-Beuren syndrome Sammour Zein M; Gomes Cristiano M; De Bessa JOSE; Pinheiro Marcello S; Chong Ae KIM et al Journal of Pediatric Urology DOI 10.1016/j.jpurol.2014.01.013 ISSN 1477-5131	HS Medicine (miscellaneous)
2013	Capítulo de livro	Principais Síndromes Genéticas Associadas a Transtornos Psiquiátricos na Infância e na Adolescência Chong Ae KIM; Bertola Débora R; Leslie Domenici KULIKOWSKI; Flavia Balbo PIAZZON Tratado de Psiquiatria da Infância e da Adolescência ISBN 9788538803300	HS Psychiatry and Mental Health
2013	Capítulo de livro	Abordagem genético-clínico na síndrome de Down C QUAIO; Chong Ae KIM; Debora Romeo BERTOLA A Promoção da saúde na Infância ISBN 9788520432242	HS Medicine (miscellaneous)
2013	Capítulo de livro	Aneuploidias constitucionais e adquiridas Marília Borges MOREIRA; Chong Ae KIM Citogenômica Aplicada à Prática Médica ISBN 9788538804284	SH Education
2013	Livro	Manejo comportamental de crianças e adolescentes com síndrome de Williams. Guia para professores; pais e cuidadores. Solange De Freitas Branco LIMA; Maria Cristina Trigueiro Veloz TEIXEIRA; Luiz Renato Rodrigues CARREIRO; Mayra Fernanda Ferreira SERACENI; Chong Ae KIM et al — ISBN 9788579540523	SH Psychology (miscellaneous)
2013	Trabalho em evento	Cytogenomic characterization of an unexpected 4q microdeletion associated to a 2p microduplication in a dysmorphic patient presenting normal karyotype A BORTOLAI; A G DANTAS; S S TAKENO; M M OLIVEIRA; A N X PACANARO et al 3a Reunião Brasileira de Citogenética e IV Simpósio Latino-Americano de Citogenética e Evolução	LS Genetics
2013	Trabalho em evento	Mechanism for rearrangements in 22q11.2 associated with wide spectrum phenotype M M MONTENEGRO; E A ZANARDO; R L DUTRA; F B PIAZZON; A T DIAS et al Reunião Brasileira de Citogenética e IV Simpósio Latino-Americano de Citogenética e Evolução	PS Artificial Intelligence
2013	Trabalho em evento	Chromosome 18p deletion syndrome: Clinical and Cytogenomic evaluation of eight patients V A MELONI; R S GUILHERME; S S TAKENO; M M OLIVEIRA; F T LIMA et al 3a Reunião Brasileira de Citogenética e IV Simpósio Latino-Americano de Citogenética e Evolução	LS Genetics
2013	Trabalho em evento	Deletion; duplication and ring of chromosome 13 and their implication to phenotype H R Oliveira JÚNIOR; R S GUILHERME; S BRAGAGNOLO; M A RAMOS; A B PEREZ et al 3a Reunião Brasileira de Citogenética e IV Simpósio Latino-Americano de Citogenética e Evolução	LS Neuroscience (miscellaneous)
2013	Trabalho em evento	Cytogenomic delineationof a complex rearrangement involving chromosomes 9;15; 18 and X associated with Grave´s disease A T DIAS; E A ZANARDO; R L DUTRA; M M MONTENEGRO; G M Novo FILHO et al 3a Reunião Brasileira de Citogenética e IV Simpósio Latino-Americano de Citogenética e Evolução	LS Genetics
2013	Trabalho em evento	Challenges in the implantation of SNP-arrays analysis in research and diagnostic E A ZANARDO; T V M M COSTA; F B PIAZZON; A T DIAS; R L DUTRA et al 3a Reunião Brasileira de Citogenética e IV Simpósio Latino-Americano de Citogenética e Evolução	HS Medicine (miscellaneous)

2014 Trabalho em evento

LS Neuroscience (miscellaneous)

Estudo do fenétipo Neurocognitivo na síndrome de deleção 22q11.2: Desempenho Intelectual e Memória Operacional em uma Amostra Pediátrica

V Reunião Anual do Instituto Brasileiro de Neuropsicologia e Comportamento e I Congresso Norte-Nordeste de Neurociências e Comportamento

Larissa Salustiano Evangelista PIMENTA; Kulikowski Leslie DOMENICI; Vera Freitas Aires MELONI; Claudia Berlim De MELLO; Orlando Francisco Amodeo BUENO et al

2014 Artigo em periódico

LS Genetics

Case Report Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation

Genetics and Molecular Research

Caio R QUAIO; Yu Kar Ling KODA; Debora R BERTOLA; Maja SUKALO; Martin ZENKER et al

DOI ISSN 1676-5680

2014 Artigo em periódico

LS Genetics

Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

American Journal of Human Genetics

Guilherme Lopes YAMAMOTO; Wagner A R BARATELA; Tatiana F ALMEIDA; Monize LAZAR; Maria K O YAMADA et al

DOI ISSN 0002-9297

2014 Artigo em periódico

LS Genetics

Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement

American Journal of Medical Genetics. Part A

F BORLOT; P ARANTES; C QUAIO; José FRANCO; I GOMY et al

DOI ISSN 1552-4825

2014 Artigo em periódico

LS Genetics

Clinical; cytogenetic; and molecular characterization of six patients with ring chromosomes 22; including one with concomitant 22q11.2 deletion

American Journal of Medical Genetics. Part A

Guilherme Roberta SANTOS; Soares Karina CUNHA; Simioni MILENA; Vieira Tarsis PAIVA; Gil Da Silva Lopes Vera LÚCIA et al

DOI ISSN 1552-4825

2014 Artigo em periódico

HS Medicine (miscellaneous)

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network

Genetics and Molecular Biology (Impresso)

Dornelles Alícia DORNELES; Pinto Louise Lapagesse De CAMARGO; Ana Carolina De PAULA; Steiner Carlos EDUARDO; Lourenço Charles MARQUES et al

DOI ISSN 1415-4757

2014 Artigo em periódico

HS Neurology (clinical)

Remote spinal cord injury in mucopolysaccharidosis type IVA after cervical decompression

Neurology (Cleveland; Ohio)

Ferlippe BORLOT; P R ARANTES; Capel Cardoso A C; Chong Ae KIM

DOI ISSN 0028-3878

2014 Artigo em periódico

HS Immunology and Allergy

NK and B cell deficiency in a MPS type II with novel mutation in the IDS gene.

Clinical Immunology (Orlando; Fla. Print)

Leuridan C TORRES; Diogo C SOARES; Leslie D KULIKOWSKI; Jose F Franco Da SILVA; Chong Ae KIM

DOI ISSN 1521-6616

2014 Artigo em periódico

LS Genetics

Further evidence of the importance of in Noonan syndrome

American Journal of Medical Genetics. Part A

Bertola Débora R; Yamamoto Guilherme L; Almeida Tatiana F; Buscarilli MICHELLE; Jorge Alexander A L et al

DOI ISSN 1552-4825

2014 Artigo em periódico

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

LIPOID PROTEINOSIS: RARE CASE CONFIRMED BY ECM1 MUTATION DETECTION

International Journal of Pediatric Otorhinolaryngology (Print)

Tatiana F ALMEIDA; Diogo C Q SOARES; Quaio CR; Honjo Rachel S; D R BERTOLA et al

DOI ISSN 0165-5876

2014 Artigo em periódico

HS Genetics (clinical)

Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes

Molecular Cytogenetics

D Angelo Carla S; Varela Monica C; De Castro Cláudia IE; Chong Ae KIM; Bertola Débora R et al

DOI ISSN 1755-8166

2014 Artigo em periódico

SH Psychology (miscellaneous)

Investigation of copy number variation in children with conotruncal heart defects

Arquivos Brasileiros de Cardiologia (Impresso)

Campos Carla Marques RONDON; Zanardo Evelin ALINE; Dutra Roberta LELIS; Kulikowski Leslie DOMENICI; Chong Ae KIM

DOI ISSN 0066-782X

2014 Artigo em periódico

LS Genetics

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

Arquivos Brasileiros de Cardiologia (Impresso)

M S GRASSI; C M JACOB; Kulikowski Leslie DOMENICI; A C PASTORINO; R L DUTRA et al

DOI ISSN 0066-782X

2014 Artigo em periódico

LS Genetics

Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome

Molecular Genetics and Genomics (Print)

Zanardo Évelin ALINE; Piazzon Flavia BALBO; Dutra Roberta LELIS; Dias Alexandre TORCHIO; Montenegro Marília MOREIRA et al

DOI ISSN 1617-4615

2014 Artigo em periódico

HS Medicine (miscellaneous)

Congenital genitourinary abnormalities in children with Williams-Beuren syndrome

Journal of Pediatric Urology

Sammour Zein M; Gomes Cristiano M; De Bessa JOSE; Pinheiro Marcello S; Chong Ae KIM et al

DOI ISSN 1477-5131

2013 Capítulo de livro

HS Psychiatry and Mental Health

Principais Síndromes Genéticas Associadas a Transtornos Psiquiátricos na Infância e na Adolescência

Tratado de Psiquiatria da Infância e da Adolescência

Chong Ae KIM; Bertola Débora R; Leslie Domenici KULIKOWSKI; Flavia Balbo PIAZZON

ISBN 9788538803300

2013 Capítulo de livro

HS Medicine (miscellaneous)

Abordagem genético-clínico na síndrome de Down

A Promoção da saúde na Infância

C QUAIO; Chong Ae KIM; Debora Romeo BERTOLA

ISBN 9788520432242

2013 Capítulo de livro

SH Education

Aneuploidias constitucionais e adquiridas

Citogenômica Aplicada à Prática Médica

Marília Borges MOREIRA; Chong Ae KIM

ISBN 9788538804284

2013 Livro

SH Psychology (miscellaneous)

Manejo comportamental de crianças e adolescentes com síndrome de Williams. Guia para professores; pais e cuidadores.

—

Solange De Freitas Branco LIMA; Maria Cristina Trigueiro Veloz TEIXEIRA; Luiz Renato Rodrigues CARREIRO; Mayra Fernanda Ferreira SERACENI; Chong Ae KIM et al

ISBN 9788579540523

2013 Trabalho em evento

LS Genetics

Cytogenomic characterization of an unexpected 4q microdeletion associated to a 2p microduplication in a dysmorphic patient presenting normal karyotype

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

A BORTOLAI; A G DANTAS; S S TAKENO; M M OLIVEIRA; A N X PACANARO et al

2013 Trabalho em evento

PS Artificial Intelligence

Mechanism for rearrangements in 22q11.2 associated with wide spectrum phenotype

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

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

2013 Trabalho em evento

LS Genetics

Chromosome 18p deletion syndrome: Clinical and Cytogenomic evaluation of eight patients

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

V A MELONI; R S GUILHERME; S S TAKENO; M M OLIVEIRA; F T LIMA et al

2013 Trabalho em evento

LS Neuroscience (miscellaneous)

Deletion; duplication and ring of chromosome 13 and their implication to phenotype

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

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

2013 Trabalho em evento

LS Genetics

Cytogenomic delineationof a complex rearrangement involving chromosomes 9;15; 18 and X associated with Grave´s disease

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

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

2013 Trabalho em evento

HS Medicine (miscellaneous)

Challenges in the implantation of SNP-arrays analysis in research and diagnostic

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

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