Eduardo Perrone - DASA, Diagnost Amer SA

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论文共 33 篇作者统计合作学者相似作者

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ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review

Eduardo Perrone,Antonio Victor Campos Coelho,Luiza do Amaral Virmond, Jessica Grasiela de Araujo Espolaor,João Bosco de Oliveira Filho, Amanda Thamires Batista do Nascimento, Marina Cadena da Matta, Joanna Goes Castro Meira, Laércio Moreira Cardoso—Júnior, Ana Camila Mendes Andrade, Ricardo Zantieff Topolski Chaves,Angelina Xavier Acosta

American Journal of Medical Genetics Part A (2024)

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ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review

Eduardo Perrone,Antonio Victor Campos Coelho,Luiza do Amaral Virmond, Jessica Grasiela de Araujo Espolaor,Joao Bosco de Oliveira Filho, Amanda Thamires Batista do Nascimento, Marina Cadena da Matta, Joanna Goes Castro Meira, Laercio Moreira Cardoso, Ana Camila Mendes Andrade, Ricardo Zantieff Topolski Chaves,Angelina Xavier Acosta

AMERICAN JOURNAL OF MEDICAL GENETICS PART App.e63602-e63602, (2024)

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Cromossomopatias e suas implicações na natimortalidade infantil

CYNTHIA CRISTINA RODRIGUES NEMÉSIO, ATMIS MEDEIROS HAIDAR,EDUARDO PERRONE, RODRIGO AMBRÓSIO FOCK

Fundamentos e Práticas Pediátricas e Neonatais - Edição VIIIpp.91-106, (2023)

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Unexpected clinical features in an individual with Schuurs-Hoeijmakers syndrome

Jéssica G A Espolaor,Eduardo Perrone, Marina F B Silva,Nara L M Sobreira,Elizabeth Wohler,Luiza A Virmond

Clinical dysmorphology（2023）

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The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023

Caio Robledo D’Angioli Costa Quaio,José Ricardo Magliocco Ceroni,Michele Araújo Pereira,Anne Caroline Barbosa Teixeira,Renata Yoshiko Yamada,Vivian Pedigone Cintra,Eduardo Perrone,Marina De França,Kelin Chen,Renata Moldenhauer Minillo,Cheysa Arielly Biondo,Mariana Rezende Bandeira de Mello,

HUMAN GENOMICS（2023）

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Doenças de depósito lisossômico

GISELE FORENTE PERILLO,THAYSE FERREIRA TELECIO, RODRIGO AMBROSIO FOCK,EDUARDO PERRONE

Fundamentos e Práticas Pediátricas e Neonatais - Edição VIIIpp.214-228, (2023)

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BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil

Patricia Mazzonetto,Fernanda Milanezi, Mariana D’Andrea, Silvia Martins, Priscilla M. Monfredini,Juliana dos Santos Silva,Eduardo Perrone,Darine Villela, Beatriz Schnabel,Viviane Nakano,Edenir Inez Palmero,Esteban Braggio,

Breast Cancer Res Treat（2023）

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BRCA1 and BRCA2 germline mutation analysis from a cohort of 1,267 high-risk breast cancer patients in Brazil

Darine Villela, Patricia Mazzonetto,Fernanda Milanezi, Mariana Andrea, Sylvia Martins, Priscilla M. Monfredini, Juliana dos Santos Silva,Eduardo Perrone, Beatriz Schnabel,Viviane Nakano, Edenir Palmero,Esteban Braggio,

Research Square (Research Square) (2022)

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Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes

Caio Robledo D' Angioli Costa Quaio,Antonio Victor Campos Coelho,Livia Maria Silva Moura,Rafael Lucas Muniz Guedes,Kelin Chen,Jose Ricardo Magliocco Ceroni,Renata Moldenhauer Minillo,Marcel Pinheiro Caraciolo,Rodrigo de Souza Reis,Bruna Mascaro Cordeiro de Azevedo,Maria Soares Nobrega,Anne Caroline Barbosa Teixeira,

FRONTIERS IN GENETICS（2022）

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Congenital Chromoanagenesis In The Routine Postnatal Chromosomal Microarray Analyses

Darine Villela,Patricia C Mazzonetto,Michele P Migliavacca,Eduardo Perrone,Gustavo Guida,Maria Fernanda G Milanezi,Alexander A L Jorge,Lucilene A Ribeiro-Bicudo,Fernando Kok,Francine Campagnari, Liane de Rosso-Giuliani,Silvia Souza da Costa,

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2021）

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