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	Capítulo de livro	Distúrbios genéticos e pediatra Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola DR Distúrbios genéticos e pediatra ISBN 9788520452820	HS Medicine (miscellaneous)
2019	Capítulo de livro	Avaliação genética Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola DR Avaliação genética ISBN 9788520452820	LS Genetics
2019	Capítulo de livro	Aconselhamento genético Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola DR Aconselhamento genético ISBN 9788520452820	HS Genetics (clinical)
2019	Capítulo de livro	Anomalias da morfogênese Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola D R Anomalias da morfogênese ISBN 9788520452820	LS Developmental Biology
2019	Capítulo de livro	Classificação das doenças genéticas Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola DR Classificação das doenças genéticas ISBN 9788520452820	HS Medicine (miscellaneous)
2019	Capítulo de livro	Alterações faciais importantes Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola DR Alterações faciais importantes ISBN 9788520452820	HS Anatomy
2019	Capítulo de livro	Cardiopatias sindrômicas Rachel S H KAWAHIRA; Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola D R; Diogo C Q SOARES Cardiopatias sindrômicas ISBN 9788520452820	HS Medicine (miscellaneous)
2019	Capítulo de livro	Aberrações dos cromossomos sexuais Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola D R; Pedro Henrique Santana CASTRO Aberrações dos cromossomos sexuais ISBN 9788520452820	SH Psychology (miscellaneous)
2019	Capítulo de livro	Alterações da pele e do tecido conectivo Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola D R; Quaio CR Alterações da pele e do tecido conectivo ISBN 9788520452820	HS Medicine (miscellaneous)
2019	Livro	Genética na Prática Pediátrica Chong Ae KIM; Lilian M J ALBANO; Bertola Débora R — ISBN 9788520452820	HS Genetics (clinical)
2019	Trabalho em evento	Clinical Findings of 28 patients with the Silver Russell Syndrome Maria Luisa Carpinetti TINOCO; Honjo Rachel S; Bertola D R; Adriano BONALDI; Angela Vianna MORGANTI et al XXXI Congresso Brasileiro de Genética Médica	LS Genetics
2019	Trabalho em evento	Intracranial Calcifications Associated with Rare Monogenic Disordes With Skeletal Involvement Bruno De Oliveira STEPHAN; Matheus Augusto Araújo CASTRO; Rodrigi Atique Ferraz De TOLEDO; Maria Rita Passos BUENO; Honjo Rachel S et al XXXI Congresso Brasileiro de Genética Médica	HS Neurology (clinical)
2019	Trabalho em evento	Three Decades Follow up of Patients with Williams-Beuren Syndrome: Clinical Findings and natural History Vanessa Figueiredo MONTELEONE; Maria Jose Rivadeneira OBANDO; Karla Tomáz FARIA; Andre Martins Dos SANTOS; Honjo R S et al XXXI Congresso Brasileiro de Genética Médica	LS Genetics
2019	Artigo em periódico	Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome Dantas Anelisa GOLLO; Santoro Marcos LEITE; Nunes NATALIA; De Mello Claudia BERLIM; Pimenta Larissa Salustiano EVANGELISTA et al HUMAN GENETICS DOI 10.1007/s00439-018-01967-6 ISSN 0340-6717	LS Genetics
2019	Artigo em periódico	Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III Ceroni José Ricardo MAGLIOCCO; Spolador Gustavo MARQUEZANI; Bermeo Diana SALAZAR; Honjo Rachel SAYURI; De Oliveira Luiz Antonio NUNES et al SKELETAL RADIOLOGY DOI 10.1007/s00256-019-3159-x ISSN 0364-2348	HS Medicine (miscellaneous)
2019	Artigo em periódico	Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines Gasparini YANCA; Montenegro Marília M; Novo Filho Gil M; Ceroni José R M; Honjo Rachel S et al CYTOGENETIC AND GENOME RESEARCH DOI 10.1159/000498836 ISSN 1424-8581	LS Developmental Biology
2019	Artigo em periódico	Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation Guo LONG; Bertola Débora ROMEO; Takanohashi ASAKO; Saito ASUKA; Segawa YUKO et al AMERICAN JOURNAL OF HUMAN GENETICS DOI 10.1016/j.ajhg.2019.03.004 ISSN 0002-9297	HS Genetics (clinical)
2019	Artigo em periódico	Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1 Saida KEN; Chong Ae KIM; Ceroni José Ricardo MAGLIOCCO; Debora Romeo BERTOLA; Honjo Rachel SAYURI et al JOURNAL OF HUMAN GENETICS DOI 10.1038/s10038-019-0626-0 ISSN 1434-5161	HS Neurology (clinical)
2019	Artigo em periódico	Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant Uchiyama YURI; Chong Ae KIM; Pastorino Antonio CARLOS; Ceroni JOSÉ; Lima Patricia PICCIARELLI et al JOURNAL OF HUMAN GENETICS DOI 10.1038/s10038-019-0631-3 ISSN 1434-5161	HS Neurology (clinical)
2019	Artigo em periódico	Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11</i></b> Mutations Related to Noonan Syndrome Malaquias Alexsandra C; Noronha Renata M; Souza Thaiana T O; Homma Thais K; Funari Mariana F A et al Hormone Research in Paediatrics DOI 10.1159/000500264 ISSN 1663-2818	HS Medicine (miscellaneous)
2019	Artigo em periódico	Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome Aoi HIROMI; Mizuguchi TAKESHI; Ceroni José RICARD; Kim Veronica Eun HUE; Furquim ISABEL et al JOURNAL OF HUMAN GENETICS DOI 10.1038/s10038-019-0643-z ISSN 1434-5161	HS Genetics (clinical)
2019	Artigo em periódico	Clinical findings in Brazilian patients with adult GM1 gangliosidosis Giugliani LUCIANA; Steiner Carlos EDUARDO; Chong Ae KIM; Lourenço Charles MARQUES; Santos Mara Lucia Schmitz FERREIRA et al JIMD REPORTS DOI 10.1002/jmd2.12067 ISSN 2192-8312	HS Genetics (clinical)
2019	Artigo em periódico	Autosomal Recessive Mutations in MESD Cause Osteogenesis Imperfecta Moosa SHAHIDA; Yamamoto Guilherme L; Garbes LUTZ; Keupp KATHARINA; Beleza Meireles ANA et al AMERICAN JOURNAL OF HUMAN GENETICS DOI 10.1016/j.ajhg.2019.08.008 ISSN 0002-9297	HS Genetics (clinical)
2019	Artigo em periódico	Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature Homma Thais K; Freire Bruna L; Honjo RACHEL; Dauber ANDREW; Funari Mariana F A et al Hormone Research in Paediatrics DOI 10.1159/000503782 ISSN 1663-2818	HS Pediatrics
2019	Artigo em periódico	Clinical Characterization of Mucolipidoses II and III: A Multicenter Study Alegra TACIANE; Sperb Ludwig FERNANDA; Guarany Nicole RUAS; Ribeiro Erlane M; Lourenço Charles M et al JOURNAL OF PEDIATRIC GENETICS DOI 10.1055/s-0039-1697605 ISSN 2146-4596	HS Genetics (clinical)

2019 Capítulo de livro

HS Medicine (miscellaneous)

Distúrbios genéticos e pediatra

Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola DR

ISBN 9788520452820

2019 Capítulo de livro

LS Genetics

Avaliação genética

Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola DR

ISBN 9788520452820

2019 Capítulo de livro

HS Genetics (clinical)

Aconselhamento genético

Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola DR

ISBN 9788520452820

2019 Capítulo de livro

LS Developmental Biology

Anomalias da morfogênese

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

ISBN 9788520452820

2019 Capítulo de livro

HS Medicine (miscellaneous)

Classificação das doenças genéticas

Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola DR

ISBN 9788520452820

2019 Capítulo de livro

HS Anatomy

Alterações faciais importantes

Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola DR

ISBN 9788520452820

2019 Capítulo de livro

HS Medicine (miscellaneous)

Cardiopatias sindrômicas

Rachel S H KAWAHIRA; Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola D R; Diogo C Q SOARES

ISBN 9788520452820

2019 Capítulo de livro

SH Psychology (miscellaneous)

Aberrações dos cromossomos sexuais

Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola D R; Pedro Henrique Santana CASTRO

ISBN 9788520452820

2019 Capítulo de livro

HS Medicine (miscellaneous)

Alterações da pele e do tecido conectivo

Chong Ae KIM; Albano Lilian Maria JOSÉ; Bertola D R; Quaio CR

ISBN 9788520452820

2019 Livro

HS Genetics (clinical)

Genética na Prática Pediátrica

—

Chong Ae KIM; Lilian M J ALBANO; Bertola Débora R

ISBN 9788520452820

2019 Trabalho em evento

LS Genetics

Clinical Findings of 28 patients with the Silver Russell Syndrome

XXXI Congresso Brasileiro de Genética Médica

Maria Luisa Carpinetti TINOCO; Honjo Rachel S; Bertola D R; Adriano BONALDI; Angela Vianna MORGANTI et al

2019 Trabalho em evento

HS Neurology (clinical)

Intracranial Calcifications Associated with Rare Monogenic Disordes With Skeletal Involvement

XXXI Congresso Brasileiro de Genética Médica

Bruno De Oliveira STEPHAN; Matheus Augusto Araújo CASTRO; Rodrigi Atique Ferraz De TOLEDO; Maria Rita Passos BUENO; Honjo Rachel S et al

2019 Trabalho em evento

LS Genetics

Three Decades Follow up of Patients with Williams-Beuren Syndrome: Clinical Findings and natural History

XXXI Congresso Brasileiro de Genética Médica

Vanessa Figueiredo MONTELEONE; Maria Jose Rivadeneira OBANDO; Karla Tomáz FARIA; Andre Martins Dos SANTOS; Honjo R S et al

2019 Artigo em periódico

LS Genetics

Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome

HUMAN GENETICS

Dantas Anelisa GOLLO; Santoro Marcos LEITE; Nunes NATALIA; De Mello Claudia BERLIM; Pimenta Larissa Salustiano EVANGELISTA et al

DOI ISSN 0340-6717

2019 Artigo em periódico

HS Medicine (miscellaneous)

Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III

SKELETAL RADIOLOGY

Ceroni José Ricardo MAGLIOCCO; Spolador Gustavo MARQUEZANI; Bermeo Diana SALAZAR; Honjo Rachel SAYURI; De Oliveira Luiz Antonio NUNES et al

DOI ISSN 0364-2348

2019 Artigo em periódico

LS Developmental Biology

Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines

CYTOGENETIC AND GENOME RESEARCH

Gasparini YANCA; Montenegro Marília M; Novo Filho Gil M; Ceroni José R M; Honjo Rachel S et al

DOI ISSN 1424-8581

2019 Artigo em periódico

HS Genetics (clinical)

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

AMERICAN JOURNAL OF HUMAN GENETICS

Guo LONG; Bertola Débora ROMEO; Takanohashi ASAKO; Saito ASUKA; Segawa YUKO et al

DOI ISSN 0002-9297

2019 Artigo em periódico

HS Neurology (clinical)

Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1

JOURNAL OF HUMAN GENETICS

Saida KEN; Chong Ae KIM; Ceroni José Ricardo MAGLIOCCO; Debora Romeo BERTOLA; Honjo Rachel SAYURI et al

DOI ISSN 1434-5161

2019 Artigo em periódico

HS Neurology (clinical)

Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant

JOURNAL OF HUMAN GENETICS

Uchiyama YURI; Chong Ae KIM; Pastorino Antonio CARLOS; Ceroni JOSÉ; Lima Patricia PICCIARELLI et al

DOI ISSN 1434-5161

2019 Artigo em periódico

HS Medicine (miscellaneous)

Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11</i></b> Mutations Related to Noonan Syndrome

Hormone Research in Paediatrics

Malaquias Alexsandra C; Noronha Renata M; Souza Thaiana T O; Homma Thais K; Funari Mariana F A et al

DOI ISSN 1663-2818

2019 Artigo em periódico

HS Genetics (clinical)

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

JOURNAL OF HUMAN GENETICS

Aoi HIROMI; Mizuguchi TAKESHI; Ceroni José RICARD; Kim Veronica Eun HUE; Furquim ISABEL et al

DOI ISSN 1434-5161

2019 Artigo em periódico

HS Genetics (clinical)

Clinical findings in Brazilian patients with adult GM1 gangliosidosis

JIMD REPORTS

Giugliani LUCIANA; Steiner Carlos EDUARDO; Chong Ae KIM; Lourenço Charles MARQUES; Santos Mara Lucia Schmitz FERREIRA et al

DOI ISSN 2192-8312

2019 Artigo em periódico

HS Genetics (clinical)

Autosomal Recessive Mutations in MESD Cause Osteogenesis Imperfecta

AMERICAN JOURNAL OF HUMAN GENETICS

Moosa SHAHIDA; Yamamoto Guilherme L; Garbes LUTZ; Keupp KATHARINA; Beleza Meireles ANA et al

DOI ISSN 0002-9297

2019 Artigo em periódico

HS Pediatrics

Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature

Hormone Research in Paediatrics

Homma Thais K; Freire Bruna L; Honjo RACHEL; Dauber ANDREW; Funari Mariana F A et al

DOI ISSN 1663-2818

2019 Artigo em periódico

HS Genetics (clinical)

Clinical Characterization of Mucolipidoses II and III: A Multicenter Study

JOURNAL OF PEDIATRIC GENETICS

Alegra TACIANE; Sperb Ludwig FERNANDA; Guarany Nicole RUAS; Ribeiro Erlane M; Lourenço Charles M et al

DOI ISSN 2146-4596