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	Trabalho em evento	Estudo molecular de pacientes com anomalias de segmentação vertebral A OLIVATI; L C TESTAI; Julia G SALOMAO; J R M CERONI; W A R BARATELA et al XXIX Congresso Brasileiro de Genética Médica	LS Neuroscience (miscellaneous)
2017	Trabalho em evento	Perfil dos pacientes com a síndrome de cri-du-chat: Levantamento de 70 questionários R S HONJO; Claudia Berlim De MELLO; L S E PIMENTA; Luciana De Melo De BENEDETTO; Regia Bernardes Ferreira KHOURY et al XXIX Congresso Brasileiro de Genética Médica	HS General Medicine
2017	Trabalho em evento	Avaliação genética em berçario de alta complexidade-experiência de 33 meses. J R M CERONI; R S HONJO; G L YAMAMOTO; Vera Lucia Jornada KREBS; Maria Esther Jurfest Rivero CECCON et al XXIX Congresso Brasileiro de Genética Médica	LS Genetics
2017	Artigo em periódico	The recurrent PPP1CB</i> mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype Bertola DÉBORA; Yamamoto GUILHERME; Buscarilli MICHELLE; Jorge ALEXANDER; Passos Bueno Maria RITA et al American Journal of Medical Genetics. Part A DOI 10.1002/ajmg.a.38070 ISSN 1552-4825	HS Genetics (clinical)
2017	Artigo em periódico	Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype Wade Emma M; Jenkins Zandra A; Daniel Philip B; Morgan TIM; Addor Marie C et al AMERICAN JOURNAL OF MEDICAL GENETICS PART A DOI 10.1002/ajmg.a.38267 ISSN 1552-4825	HS Genetics (clinical)
2017	Artigo em periódico	Mucopolysaccharidosis type I; II and VI and response to enzyme replacement therapy: Results from a single-center case series study Franco José Francisco Da SILVA; El Dib REGINA; Agarwal ARNAV; Soares DIOGO; Milhan Noala Vicensoto MOREIRA et al Intractable & Rare Diseases Research DOI 10.5582/irdr.2017.01036 ISSN 2186-361X	HS Genetics (clinical)
2017	Artigo em periódico	GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms Ludwig Nataniel FLORIANO; Velho Renata VOLTOLINI; Sperb Ludwig FERNANDA; Acosta Angelina XAVIER; Ribeiro Erlane MARQUES et al INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY DOI 10.1016/j.biocel.2017.09.006 ISSN 1357-2725	HS Genetics (clinical)
2017	Artigo em periódico	Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience Zanardo EA; Dutra RL; Piazzon FB; Dias AT; Novo Filho GM et al Clinics DOI 10.6061/clinics/2017(09)02 ISSN 1807-5932	HS Neurology (clinical)
2017	Artigo em periódico	Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities Sobreira NARA; Brucato MARTHA; Zhang LI; Ladd Acosta CHRISTINE; Ongaco CHRISSIE et al EUROPEAN JOURNAL OF HUMAN GENETICS DOI 10.1038/s41431-017-0023-0 ISSN 1018-4813	HS Genetics (clinical)
2017	Artigo em periódico	Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome Soares Diogo C; Stroparo Mariana N; Lian Yu C; Takakura Cristina Y; Wolf SABRINA et al JOURNAL OF INHERITED METABOLIC DISEASE DOI 10.1007/s10545-016-9996-z ISSN 0141-8955	HS Neurology (clinical)
2017	Artigo em periódico	Associations between fetal testosterone adn pro-social tendencies; anxiety and autistic symptoms in Williams syndrome:a preliminary study Aac OSORIO; Jht Do EGITO; Gc MARTINS; Chong Ae KIM; Rachel S HONJO et al International Journal of Developmental Disabilities ISSN 2047-3869	SH Developmental and Educational Psychology
2016	Capítulo de livro	Main Genetic Disorders Involving the Ear Chong Ae KIM; Lilian M J ALBANO; Honjo Rachel SAYURI XV IAPO Manual of Pediatric Otorhinolaryngology ISBN 9788560209316	LS Neuroscience (miscellaneous)
2016	Trabalho em evento	Clinical and laboratory evaluation of patients with mucopolysaccharidosis types I;II and VI rceiving Enzyme Replacement Therapy (ERT) Chong Ae KIM; Diogo C SOARES; Lilian M J ALBANO; R S HONJO; Stephanie P PEGLER et al 13th International Congress of Human Genetics	HS Genetics (clinical)
2016	Trabalho em evento	Possible disruption of cis and trans regulation due to 22q11.2 deletion A G DANTAS; Diego R MAZZOTTI; Vanessa K OTA; Adriana BORTOLAI; Marcos L SANTORO et al 13th International Congress of Human Genetics	LS Neuroscience (miscellaneous)
2016	Trabalho em evento	Chromosomal microarray(CMA) in Brazilian patients with phenotypic alterations and normal G-banding karyotypes Melaragno Maria ISABEL; Mariana Moyses OLIVEIRA; Mileny S COLOVATI; Sylvia S TAKENO; Helio R Oliveira JÚNIOR et al 13th International Congress of Human Genetics	LS Genetics
2016	Trabalho em evento	CNVs assessment by whole exome sequencing in patients with multiple congenital malformations and developmental delay Evelin A ZANARDO; Gil M Novo FILHO; Marilia M MONTENEGRO; Alexandre T DIAS; Thais V COSTA et al 13th International Congress of Human Genetics	HS Neurology (clinical)
2016	Trabalho em evento	Next-generation sequencing approach in skeletal dysplasias with prenatal onset: experience of a tertiary center in Brazil G L YAMAMOTO; Carolina MALCHER; Wagner A R BARATELA; Rossana VIERA; Marco Antonio LOPES et al 13th International Congress of Human Genetics	LS Genetics
2016	Trabalho em evento	Investigação citogenômica em pacientes com atraso de desenvolvimento neuropsicomotor associado à malformação congênita Flavia Balbo PIAZZON; A DIAS; E ZANARDO; Gil Monteiro Novo FILHO; M MONTENEGRO et al XXVIII Congresso Brasileiro de Genética Médica	HS Medicine (miscellaneous)
2016	Trabalho em evento	Sequenciamento de nova geração em displasias esqueléticas de início pré-natal:experiência de um centro terciário G L YAMAMOTO; Wagner A R BARATELA; Carolina MALCHER; Rossana VIEIRA; Marco Antonio LOPES et al XXVIII Congresso Brasileiro de Genética Médica	HS Medicine (miscellaneous)
2016	Trabalho em evento	A musical pathway to improve some cognitive functions in Williams syndrome Lilian M J ALBANO; Honjo Rachel SAYURI; Michele M NUNES; Kulikowski Leslie D; Stephenie Pucci PEGLER et al XXVIII Congresso Brasileiro de Genética Médica	LS Neuroscience (miscellaneous)
2016	Trabalho em evento	Análise das características clínicas e genética em pacientes com síndrome de Silver Russell Pedro Henrique Santana CASTRO; Sofia M M SUGAYAMA; Honjo Rachel S; Yamamoto Guilherme L; L M J ALBANO et al XXVIII Congresso Brasileiro de Genética Médica	LS Genetics
2016	Trabalho em evento	Molecular and phenotypic characterization of Brazilian patients with Sotos syndrome Diogo C Q SOARES; Kyungsoo HA; Priya ANAND; Jennifer A LEE; Julie R JONES et al XXVIII Congresso Brasileiro de Genética Médica	LS Genetics
2016	Trabalho em evento	Radiologial findings of nine Brazilian patients with Mucopolysaccharidosis type IV Diogo C Q SOARES; S M M SUGAYAMA; S P PEGLER; G L YAMAMOTO; R S HONJO et al XXVIII Congresso Brasileiro de Genética Médica	LS Genetics
2016	Trabalho em evento	Clinical and laboratory evaluation of patients with Mucoplysaccharidose type I;II and VI receiving enzyme replacement therapy (ERT) J F Da Silva FRANCO; Diogo C SOARES; S P PEGLER; Honjo Rachel S; Chong Ae KIM XXVIII Congresso Brasileiro de Genética Médica	LS Genetics
2016	Trabalho em evento	Estratégia diagnóstica combinada para a caracterização molecular de pacientes com suspeita de Distrofia Muscular de Duchenne A T DIAS; E A ZANARDO; F A R MADIA; Thais Moura Machado COSTA; Cintia MILANI et al XXVIII Congresso Brasileiro de Genética Médica	HS Genetics (clinical)

2017 Trabalho em evento

LS Neuroscience (miscellaneous)

Estudo molecular de pacientes com anomalias de segmentação vertebral

XXIX Congresso Brasileiro de Genética Médica

A OLIVATI; L C TESTAI; Julia G SALOMAO; J R M CERONI; W A R BARATELA et al

2017 Trabalho em evento

HS General Medicine

Perfil dos pacientes com a síndrome de cri-du-chat: Levantamento de 70 questionários

XXIX Congresso Brasileiro de Genética Médica

R S HONJO; Claudia Berlim De MELLO; L S E PIMENTA; Luciana De Melo De BENEDETTO; Regia Bernardes Ferreira KHOURY et al

2017 Trabalho em evento

LS Genetics

Avaliação genética em berçario de alta complexidade-experiência de 33 meses.

XXIX Congresso Brasileiro de Genética Médica

J R M CERONI; R S HONJO; G L YAMAMOTO; Vera Lucia Jornada KREBS; Maria Esther Jurfest Rivero CECCON et al

2017 Artigo em periódico

HS Genetics (clinical)

The recurrent PPP1CB</i> mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype

American Journal of Medical Genetics. Part A

Bertola DÉBORA; Yamamoto GUILHERME; Buscarilli MICHELLE; Jorge ALEXANDER; Passos Bueno Maria RITA et al

DOI ISSN 1552-4825

2017 Artigo em periódico

HS Genetics (clinical)

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Wade Emma M; Jenkins Zandra A; Daniel Philip B; Morgan TIM; Addor Marie C et al

DOI ISSN 1552-4825

2017 Artigo em periódico

HS Genetics (clinical)

Mucopolysaccharidosis type I; II and VI and response to enzyme replacement therapy: Results from a single-center case series study

Intractable & Rare Diseases Research

Franco José Francisco Da SILVA; El Dib REGINA; Agarwal ARNAV; Soares DIOGO; Milhan Noala Vicensoto MOREIRA et al

DOI ISSN 2186-361X

2017 Artigo em periódico

HS Genetics (clinical)

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms

INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Ludwig Nataniel FLORIANO; Velho Renata VOLTOLINI; Sperb Ludwig FERNANDA; Acosta Angelina XAVIER; Ribeiro Erlane MARQUES et al

DOI ISSN 1357-2725

2017 Artigo em periódico

HS Neurology (clinical)

Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience

Clinics

Zanardo EA; Dutra RL; Piazzon FB; Dias AT; Novo Filho GM et al

DOI ISSN 1807-5932

2017 Artigo em periódico

HS Genetics (clinical)

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

EUROPEAN JOURNAL OF HUMAN GENETICS

Sobreira NARA; Brucato MARTHA; Zhang LI; Ladd Acosta CHRISTINE; Ongaco CHRISSIE et al

DOI ISSN 1018-4813

2017 Artigo em periódico

HS Neurology (clinical)

Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome

JOURNAL OF INHERITED METABOLIC DISEASE

Soares Diogo C; Stroparo Mariana N; Lian Yu C; Takakura Cristina Y; Wolf SABRINA et al

DOI ISSN 0141-8955

2017 Artigo em periódico

SH Developmental and Educational Psychology

Associations between fetal testosterone adn pro-social tendencies; anxiety and autistic symptoms in Williams syndrome:a preliminary study

International Journal of Developmental Disabilities

Aac OSORIO; Jht Do EGITO; Gc MARTINS; Chong Ae KIM; Rachel S HONJO et al

ISSN 2047-3869

2016 Capítulo de livro

LS Neuroscience (miscellaneous)

Main Genetic Disorders Involving the Ear

XV IAPO Manual of Pediatric Otorhinolaryngology

Chong Ae KIM; Lilian M J ALBANO; Honjo Rachel SAYURI

ISBN 9788560209316

2016 Trabalho em evento

HS Genetics (clinical)

Clinical and laboratory evaluation of patients with mucopolysaccharidosis types I;II and VI rceiving Enzyme Replacement Therapy (ERT)

13th International Congress of Human Genetics

Chong Ae KIM; Diogo C SOARES; Lilian M J ALBANO; R S HONJO; Stephanie P PEGLER et al

2016 Trabalho em evento

LS Neuroscience (miscellaneous)

Possible disruption of cis and trans regulation due to 22q11.2 deletion

13th International Congress of Human Genetics

A G DANTAS; Diego R MAZZOTTI; Vanessa K OTA; Adriana BORTOLAI; Marcos L SANTORO et al

2016 Trabalho em evento

LS Genetics

Chromosomal microarray(CMA) in Brazilian patients with phenotypic alterations and normal G-banding karyotypes

13th International Congress of Human Genetics

Melaragno Maria ISABEL; Mariana Moyses OLIVEIRA; Mileny S COLOVATI; Sylvia S TAKENO; Helio R Oliveira JÚNIOR et al

2016 Trabalho em evento

HS Neurology (clinical)

CNVs assessment by whole exome sequencing in patients with multiple congenital malformations and developmental delay

13th International Congress of Human Genetics

Evelin A ZANARDO; Gil M Novo FILHO; Marilia M MONTENEGRO; Alexandre T DIAS; Thais V COSTA et al

2016 Trabalho em evento

LS Genetics

Next-generation sequencing approach in skeletal dysplasias with prenatal onset: experience of a tertiary center in Brazil

13th International Congress of Human Genetics

G L YAMAMOTO; Carolina MALCHER; Wagner A R BARATELA; Rossana VIERA; Marco Antonio LOPES et al

2016 Trabalho em evento

HS Medicine (miscellaneous)

Investigação citogenômica em pacientes com atraso de desenvolvimento neuropsicomotor associado à malformação congênita