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Reproductive alternatives for patients with dystrophic epidermolysis bullosa oleh Denise Maria Christofolini, José Ricardo Magliocco Ceroni, Giovanna Guimarães Soares, Gustavo Bertollini Lamy, Ana Carolina Nemeth Calvo, Tamara Alba dos Santos, Bianca Del Bel Sonoda, Bianca Bianco, Caio Parente Barbosa

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Natural history of 39 patients with Achondroplasia oleh Jose Ricardo Magliocco Ceroni, Diogo Cordeiro de Queiroz Soares, Larissa de Cássia Testai, Rachel Sayuri Honjo Kawahira, Guilherme Lopes Yamamoto, Sofia Mizuho Miura Sugayama, Luiz Antonio Nunes de Oliveira, Debora Romeo Bertola, Chong Ae Kim

Diterbitkan 2018-07-01

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Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases oleh Caio Robledo D.’Angioli Costa Quaio, Jose Ricardo Magliocco Ceroni, Murilo Castro Cervato, Helena Strelow Thurow, Caroline Monaco Moreira, Ana Carolina Gomes Trindade, Cintia Reys Furuzawa, Rafaela Rogerio Floriano de Souza, Sandro Felix Perazzio, Aurelio Pimenta Dutra, Christine Hsiaoyun Chung, Chong Ae Kim

Diterbitkan 2022-05-01

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Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil oleh Michel S. Naslavsky, Marilia O. Scliar, Guilherme L. Yamamoto, Jaqueline Yu Ting Wang, Stepanka Zverinova, Tatiana Karp, Kelly Nunes, José Ricardo Magliocco Ceroni, Diego Lima de Carvalho, Carlos Eduardo da Silva Simões, Daniel Bozoklian, Ricardo Nonaka, Nayane dos Santos Brito Silva, Andreia da Silva Souza, Heloísa de Souza Andrade, Marília Rodrigues Silva Passos, Camila Ferreira Bannwart Castro, Celso T. Mendes-Junior, Rafael L. V. Mercuri, Thiago L. A. Miller, Jose Leonel Buzzo, Fernanda O. Rego, Nathalia M. Araújo, Wagner C. S. Magalhães, Regina Célia Mingroni-Netto, Victor Borda, Heinner Guio, Carlos P. Rojas, Cesar Sanchez, Omar Caceres, Michael Dean, Mauricio L. Barreto, Maria Fernanda Lima-Costa, Bernardo L. Horta, Eduardo Tarazona-Santos, Diogo Meyer, Pedro A. F. Galante, Victor Guryev, Erick C. Castelli, Yeda A. O. Duarte, Maria Rita Passos-Bueno, Mayana Zatz

Diterbitkan 2022-03-01

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Author Correction: Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil oleh Michel S. Naslavsky, Marilia O. Scliar, Guilherme L. Yamamoto, Jaqueline Yu Ting Wang, Stepanka Zverinova, Tatiana Karp, Kelly Nunes, José Ricardo Magliocco Ceroni, Diego Lima de Carvalho, Carlos Eduardo da Silva Simões, Daniel Bozoklian, Ricardo Nonaka, Nayane dos Santos Brito Silva, Andreia da Silva Souza, Heloísa de Souza Andrade, Marília Rodrigues Silva Passos, Camila Ferreira Bannwart Castro, Celso T. Mendes-Junior, Rafael L. V. Mercuri, Thiago L. A. Miller, Jose Leonel Buzzo, Fernanda O. Rego, Nathalia M. Araújo, Wagner C. S. Magalhães, Regina Célia Mingroni-Netto, Victor Borda, Heinner Guio, Carlos P. Rojas, Cesar Sanchez, Omar Caceres, Michael Dean, Mauricio L. Barreto, Maria Fernanda Lima-Costa, Bernardo L. Horta, Eduardo Tarazona-Santos, Diogo Meyer, Pedro A. F. Galante, Victor Guryev, Erick C. Castelli, Yeda A. O. Duarte, Maria Rita Passos-Bueno, Mayana Zatz

Diterbitkan 2022-03-01

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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 oleh Caio Robledo D’ Angioli Costa Quaio, Caio Robledo D’ Angioli Costa Quaio, Antonio Victor Campos Coelho, Livia Maria Silva Moura, Livia Maria Silva Moura, Rafael Lucas Muniz Guedes, Rafael Lucas Muniz Guedes, Kelin Chen, Jose Ricardo Magliocco Ceroni, Renata Moldenhauer Minillo, Marcel Pinheiro Caraciolo, Marcel Pinheiro Caraciolo, Rodrigo de Souza Reis, Rodrigo de Souza Reis, Bruna Mascaro Cordeiro de Azevedo, Maria Soares Nobrega, Anne Caroline Barbosa Teixeira, Matheus Martinelli Lima, Thamara Rayssa da Mota, Thamara Rayssa da Mota, Marina Cadena da Matta, Gabriela Borges Cherulli Colichio, Aline Lulho Roncalho, Ana Flavia Martinho Ferreira, Gabriela Pereira Campilongo, Eduardo Perrone, Eduardo Perrone, Luiza do Amaral Virmond, Carolina Araujo Moreno, Carolina Araujo Moreno, Joana Rosa Marques Prota, Joana Rosa Marques Prota, Marina de França, Murilo Castro Cervato, Murilo Castro Cervato, Tatiana Ferreira de Almeida, Joao Bosco de Oliveira Filho

Diterbitkan 2022-08-01

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The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023 oleh 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, Lais Rodrigues Moura, Amanda Thamires Batista do Nascimento, Karla de Oliveira Pelegrino, Larissa Barbosa de Lima, Luiza do Amaral Virmond, Carolina Araujo Moreno, Joana Rosa Marques Prota, Jessica Grasiela de Araujo Espolaor, Thiago Yoshinaga Tonholo Silva, Gabriel Hideki Izuka Moraes, Gustavo Santos de Oliveira, Livia Maria Silva Moura, Marcel Pinheiro Caraciolo, Rafael Lucas Muniz Guedes, Michel Chieregato Gretschischkin, Pedro Lui Nigro Chazanas, Carolina Naomi Izo Nakamura, Rodrigo de Souza Reis, Carmen Melo Toledo, Fernanda Stussi Duarte Lage, Giovanna Bloise de Almeida, José Bandeira do Nascimento Júnior, Milena Andreuzo Cardoso, Victor de Paula Azevedo, Tatiana Ferreira de Almeida, Murilo Castro Cervato, Joao Bosco de Oliveira Filho

Diterbitkan 2023-11-01

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