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
2019	Artigo em periódico	Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing T K HOMMA; B L FREIRE; R S Honjo KAWASHIRA; A DAUBER; M F A FUNARI et al JOURNAL OF PEDIATRICS DOI 10.1016/j.jpeds.2019.08.024. ISSN 0022-3476	LS Genetics
2019	Artigo em periódico	Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11.2 Deletion Syndrome (22q11.2DS) based on the Wechsler Scale Pimenta Larissa Salustiano EVANGELISTA; Mello Cláudia Berlim DE; Soares Diogo Cordeiro De QUEIROZ; Dantas Anelisa GOLLO; Melaragno Maria ISABEL et al ESTUDOS DE PSICOLOGIA DOI 10.1590/1982-0275201936e180101 ISSN 1982-0275	SH Psychology (miscellaneous)
2018	Capítulo de livro	Principais Síndromes Genéticas Associadas a transtornos Psiquiátricos na Infância e na Adolescência Chong Ae KIM; Bertola Debora R; Kulikowski Leslie D; Piazzon Flavia BALBO tratado de Psiquiatria da Infância e da Adolescência ISBN 9788538803300	HS Genetics (clinical)
2018	Trabalho em evento	Mindfulness para mães de pessoas com deficiências Leticia Souza OLIVEIRA; Priscila PALOMO; Chong Ae KIM; Marcelo Marcos Piva DEMARZO VII Congresso Brasileiro de Terapia Cognitiva da Infância e Adolescência	SH Psychology (miscellaneous)
2018	Trabalho em evento	Natural Killer Cell Abnormalities in Patients with 22q11.2 Soares Diogo Cordeiro QUEIROZ; M MATTA; A DANTAS; A PASTORINO; L KULIKOWSKI et al 18th Biennial Meeting of the European Society for Immunodeficiencies ( ESID 2018)	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2018	Trabalho em evento	Efeitos do Programa de promoção da Saúde baseada em Mindfulness(PSBM) na Qualidade de Vida de familiares cuidadores de pacientes com a síndrome genética rara Mucopolissacaridose Leticia Souza OLIVEIRA; Priscila PALOMO; Vicente Sarubbi JUNIOR; Shirlene Aparecida LOPES; Daniela Rodrigues De OLIVEIRA et al XXX Congresso Brasileiro da SBGM/VII Congresso Brasileiro da SBTEIM	HS Medicine (miscellaneous)
2018	Trabalho em evento	Next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in 22q11.2 deletion syndrome N NUNES; Chong Ae KIM; Soares Diogo Cordeiro QUEIROZ; Meloni Vera A; Belangero Sintia NOGUEIRA et al European Human Genetics Conference	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2018	Trabalho em evento	Phenotype Acessment of a Brazilian Cornelia de Lange Syndrome(CDLS) Veronica E H KIM; Ceroni José R M; P H S CASTRO; Caroline OLIVATI; Claudia BERLIM et al European Human Genetics Conference	LS Neurology
2018	Trabalho em evento	Investigating the CNVs in routine diagnostics using WES and array in Brazilian patients S N CHEHIMI; F P MONTEIRO; F A R MADIA; Gil M Novo FILHO; A T DIAS et al European Human Genetics Conference	LS Neuroscience (miscellaneous)
2018	Trabalho em evento	Overlapping phenotypes in patients harboring heterozygous mutations in KAT6A and KAT6B S ESTRELLA; Bertola Debora R; Yamamoto G L; Honjo R S; Ceroni JR et al European Human Genetics Conference	LS Genetics
2018	Trabalho em evento	Molecular autopsy reveals clues for genetic basis of congenital valve defect . F A R MADIA; A T DIAS; E A ZANARDO; J G DAMASCENO; A M NASCIMENTO et al European Human Genetics Conference	LS Biochemistry; Genetics and Molecular Biology (miscellaneous)
2018	Artigo em periódico	Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity D Angelo Carla SUSTEK; Varela Monica CASTRO; De Castro Claudia Irene EMÍLIO; Otto Paulo ALBERTO; Perez Ana Beatriz ALVAREZ et al Molecular Cytogenetics DOI 10.1186/s13039-018-0363-7 ISSN 1755-8166	HS Genetics (clinical)
2018	Artigo em periódico	Characteristics of 73 Brazilian patients with Cri du chat syndrome Rachel Sayuri HONJO; Claudia Berlim De MELLO; Larissa S R PIMENTA; Evelyn Cristina Nunez VACA; Luciana Mello De BENEDETTO et al JOURNAL OF INTELLECTUAL DISABILITY RESEARCH DOI 10.1111/jir.12476 ISSN 1365-2788	HS Medicine (miscellaneous)
2018	Artigo em periódico	Large deletion in PIGL:a common mutational mechanism in CHIME syndrome? Jose Ricardo M CERONI; Guilherme L YAMAMOTO; Chong Ae KIM; Maria Rita Passos BUENO; D R BERTOLA GENETICS AND MOLECULAR BIOLOGY DOI 10.1590/1678-4685-GMB-2017-0172 ISSN 1415-4757	LS Genetics
2018	Artigo em periódico	Richieri-Costa-Pereira syndrome: expanding its phenotypic and genotypic spectrum Bertola D R; Gabriella HSIA; Lucas ALVIZI; Gardham A; Wakeling E et al CLINICAL GENETICS DOI 10.1111/cge.13169 ISSN 0009-9163	LS Neurology
2018	Artigo em periódico	Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): Case report Salvucci Isadora Darriba MACEDO; Finzi SIMONE; Oyamada Maria KIYOKO; Chong Ae KIM; Pimentel Sérgio Luis GIANOTTI OPHTHALMIC GENETICS DOI 10.1080/13816810.2017.1354383 ISSN 1381-6810	HS Medicine (miscellaneous)
2018	Artigo em periódico	Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause Homma Thais K; Krepischi Ana C V; Furuya Tatiane K; Honjo Rachel S; Malaquias Alexsandra C et al Hormone Research in Paediatrics DOI 10.1159/000481777 ISSN 1663-2818	LS Neurology
2018	Artigo em periódico	Cognitive and behavioral profile of Williams Syndrome toddlers Braga Ana CLAÚDIA; Carreiro Luiz Renato RODRIGUES; Tafla Tally LICHTENSZTEJN; Ranalli Nadia Maria GIARETTA; Silva Maria Fernanda Costa E et al CODAS DOI 10.1590/2317-1782/20182017188 ISSN 2317-1782	HS Pediatrics; Perinatology and Child Health
2018	Artigo em periódico	Natural history of 39 patients with Achondroplasia Ceroni JR; Soares DC; Testai LC; Kawahira RS; Yamamoto GL et al Clinics DOI 10.6061/clinics/2018/e324 ISSN 1807-5932	LS Neurology
2018	Artigo em periódico	A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability J R M CERONI; Roberta Lelis DUTRA; Rachel Sayuri HONJO; Juan C LLERENA; Angelina X ACOSTA et al Scientific Reports DOI 10.1038/s41598-018-31754-2 ISSN 2045-2322	SH Psychology (miscellaneous)
2018	Artigo em periódico	Características da avaliação auditiva na síndrome de Williams: revisão sistemática Silva Liliane Aparecida FAGUNDES; Chong Ae KIM; Matas Carla GENTILE CODAS DOI 10.1590/2317-1782/20182017267 ISSN 2317-1782	HS Speech and Hearing
2018	Artigo em periódico	Diagnosis and management of systemic hypertension due to renovascular and aortic stenosis in patients with Williams-Beuren syndrome Furusawa Erika ARAI; Esposito Camila Sanches LANETZKI; Honjo Rachel SAYURI; Suzuki LISA; Leal Gabriela NUNES et al REVISTA DA ASSOCIAÇÃO MÉDICA BRASILEIRA DOI 10.1590/1806-9282.64.08.723 ISSN 1806-9282	HS Medicine (miscellaneous)
2018	Artigo em periódico	CBS</i> mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients Poloni SORAIA; Sperb Ludwig FERNANDA; Borsatto TACIANE; Weber Hoss GIOVANA; Doriqui Maria Juliana R et al MOLECULAR GENETICS & GENOMIC MEDICINE DOI 10.1002/mgg3.342 ISSN 2324-9269	HS Genetics (clinical)
2018	Artigo em periódico	Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with -corner fractures- Costantini ALICE; Valta HELENA; Baratang Nissan VIDA; Yap PATRICK; Bertola Débora R et al BONE DOI 10.1016/j.bone.2018.12.020 ISSN 8756-3282	LS Genetics
2018	Artigo em periódico	Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation Bastos Karina Lucio De MEDEIROS; Quaio Caio ROBLEDO; Lima Fabiana ROBERTO; Araújo Iana MANUELLE; Araújo Candice Alves TAVARES et al Clinical and Molecular Hepatology DOI 10.3350/cmh.2018.0005 ISSN 2287-2728	LS Pharmacology; Toxicology and Pharmaceutics (miscellaneous)

2019 Artigo em periódico

LS Genetics

Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing

JOURNAL OF PEDIATRICS

T K HOMMA; B L FREIRE; R S Honjo KAWASHIRA; A DAUBER; M F A FUNARI et al

DOI ISSN 0022-3476

2019 Artigo em periódico

SH Psychology (miscellaneous)

Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11.2 Deletion Syndrome (22q11.2DS) based on the Wechsler Scale

ESTUDOS DE PSICOLOGIA

Pimenta Larissa Salustiano EVANGELISTA; Mello Cláudia Berlim DE; Soares Diogo Cordeiro De QUEIROZ; Dantas Anelisa GOLLO; Melaragno Maria ISABEL et al

DOI ISSN 1982-0275

2018 Capítulo de livro

HS Genetics (clinical)

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

tratado de Psiquiatria da Infância e da Adolescência

Chong Ae KIM; Bertola Debora R; Kulikowski Leslie D; Piazzon Flavia BALBO

ISBN 9788538803300

2018 Trabalho em evento

SH Psychology (miscellaneous)

Mindfulness para mães de pessoas com deficiências

VII Congresso Brasileiro de Terapia Cognitiva da Infância e Adolescência

Leticia Souza OLIVEIRA; Priscila PALOMO; Chong Ae KIM; Marcelo Marcos Piva DEMARZO

2018 Trabalho em evento

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Natural Killer Cell Abnormalities in Patients with 22q11.2

18th Biennial Meeting of the European Society for Immunodeficiencies ( ESID 2018)

Soares Diogo Cordeiro QUEIROZ; M MATTA; A DANTAS; A PASTORINO; L KULIKOWSKI et al

2018 Trabalho em evento

HS Medicine (miscellaneous)

Efeitos do Programa de promoção da Saúde baseada em Mindfulness(PSBM) na Qualidade de Vida de familiares cuidadores de pacientes com a síndrome genética rara Mucopolissacaridose

XXX Congresso Brasileiro da SBGM/VII Congresso Brasileiro da SBTEIM

Leticia Souza OLIVEIRA; Priscila PALOMO; Vicente Sarubbi JUNIOR; Shirlene Aparecida LOPES; Daniela Rodrigues De OLIVEIRA et al

2018 Trabalho em evento

LS Biochemistry; Genetics and Molecular Biology (miscellaneous)

Next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in 22q11.2 deletion syndrome