Estudo comparativo entre a síndrome antifosfolípide primária e a secundária: características clínico-laboratoriais em 149 pacientes Comparative study between primary and secondary... by Caio Robledo D'Angioli Costa Quaio, Paulo Eduardo Daruge Grando, Jozélio Freire de Carvalho

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Exome sequencing of 500 Brazilian patients with rare diseases: what we have learned by Caio Robledo D’Angioli Costa Quaio, Caroline Monaco Moreira, Christine Hsiaoyun Chung, Sandro Felix Perazzio, Aurelio Pimenta Dutra, Chong Ae Kim

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EVALUATION OF AGREEMENT BETWEEN C/T-13910 POLYMORPHISM GENOTYPING RESULTS AND LACTOSE TOLERANCE TEST RESULTS: A RETROSPECTIVE POPULATION-BASED STUDY IN BRAZIL by Marcia Wehba Esteves CAVICHIO, Caio Robledo D’Angioli Costa QUAIO, Wagner Antonio da Rosa BARATELA, Patrícia Marinho Costa de OLIVEIRA, Soraia TAHAN

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A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome by Caio Robledo D'Angioli Costa Quaio, Tatiana Ferreira de Almeida, Lilian Maria José Albano, Israel Gomy, Debora Romeo Bertola, Monica Castro Varela, Celia P. Koiffmann, Chong Ae Kim

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Tegumentary manifestations of Noonan and Noonan-related syndromes by Caio Robledo D'Angioli Costa Quaio, Tatiana Ferreira de Almeida, Amanda Salem Brasil, Alexandre C. Pereira, Alexander A. L. Jorge, Alexsandra C. Malaquias, Chong Ae Kim, Debora Romeo Bertola

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Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology by Ana Lígia Buzolin, Caroline Mônaco Moreira, Patricia Rossi Sacramento, Andre Yuji Oku, Alexandre Ricardo dos Santos Fornari, David Santos Marco Antonio, Caio Robledo D Angioli Costa Quaio, Wagner Rosa Baratela, Miguel Mitne-Neto

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Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases by 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

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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 by 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

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Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases by Caio Robledo D’Angioli Costa Quaio, María José Rivadeneira Obando, Sandro Felix Perazzio, Aurelio Pimenta Dutra, Christine Hsiaoyun Chung, Caroline Monaco Moreira, Gil Monteiro Novo Filho, Patricia Rossi Sacramento-Bobotis, Michele Groenner Penna, Rafaela Rogerio Floriano de Souza, Vivian Pedigone Cintra, Juliana Emilia Prior Carnavalli, Rafael Alves da Silva, Monize Nakamoto Provisor Santos, Daniele Paixão, Wagner Antonio da Rosa Baratela, Caroline Olivati, Gustavo Marquezani Spolador, Maria Carolina Pintao, Alexandre Ricardo dos Santos Fornari, Matheus Burger, Rodrigo Fernandes Ramalho, Otavio Jose Eulalio Pereira, Elisa Napolitano e Ferreira, Miguel Mitne-Neto, Chong Ae Kim

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

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