Clinical and molecular evaluation of 13 Brazilian patients with Gomez‐López‐Hernández syndrome von Perrone, Eduardo, Perez, Ana Beatriz Alvarez, D'Almeida, Vânia, Mello, Claudia Berlim, Jacobina, Marcela Amaral Avelino, Loureiro, Rafael Maffei, Burlin, Stênio, Migliavacca, Michele, Amaral Virmond, Luiza, Graziadio, Carla, Pedroso, José Luiz, Mendes, Elaine Lustosa, Gomy, Israel, Macena Sobreira, Nara Lygia

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CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus von Queiroz Júnior, Amaro Freire, Sanseverino, Maria Teresa Vieira, Collares, Marcus Vinicius Martins, Fornari, Adriana, Virmond, Luiza Amaral, Filho, João Bosco Oliveira, Artigalás, Osvaldo, Félix, Têmis Maria

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ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review von Perrone, Eduardo, Coelho, Antonio Victor Campos, Virmond, Luiza do Amaral, Espolaor, Jessica Grasiela de Araujo, Filho, João Bosco de Oliveira, Nascimento, Amanda Thamires Batista do, Matta, Marina Cadena da, Meira, Joanna Goes Castro, Cardoso—Júnior, Laércio Moreira, Andrade, Ana Camila Mendes, Chaves, Ricardo Zantieff Topolski, Acosta, Angelina Xavier

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CNOT1 p. Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus von de Queiroz Júnior, Amaro Freire, Sanseverino, Maria Teresa Vieira, Collares, Marcus Vinicius Martins, Fornari, Adriana, do Virmond, Luiza Amaral, Filho, João Bosco Oliveira, Artigalás, Osvaldo, Félix, Têmis Maria

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A novel variant in the COX15 gene causing a fatal infantile cardioencephalomyopathy: A case report with clinical and molecular review von Galvão de Oliveira, Manuella, Tengan, Célia, Micheletti, Cecília, Ramos de Macedo, Paloma, Soares Pinho Cernach, Mirlene Cecília, Cavole, Thiago Rodrigues, de França Basto, Marina, Filho, Joselito Sobreira, Virmond, Luiza Amaral, Milanezi, Fernanda, Nakano, Viviane, Falconi, Ariane, Perrone, Eduardo

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The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023 von Quaio, Caio Robledo D’Angioli Costa, Ceroni, José Ricardo Magliocco, Pereira, Michele Araújo, Teixeira, Anne Caroline Barbosa, Yamada, Renata Yoshiko, Cintra, Vivian Pedigone, Perrone, Eduardo, De França, Marina, Chen, Kelin, Minillo, Renata Moldenhauer, Biondo, Cheysa Arielly, de Mello, Mariana Rezende Bandeira, Moura, Lais Rodrigues, do Nascimento, Amanda Thamires Batista, de Oliveira Pelegrino, Karla, de Lima, Larissa Barbosa, do Amaral Virmond, Luiza, Moreno, Carolina Araujo, Prota, Joana Rosa Marques, de Araujo Espolaor, Jessica Grasiela, Silva, Thiago Yoshinaga Tonholo, Moraes, Gabriel Hideki Izuka, de Oliveira, Gustavo Santos, Moura, Livia Maria Silva, Caraciolo, Marcel Pinheiro, Guedes, Rafael Lucas Muniz, Gretschischkin, Michel Chieregato, Chazanas, Pedro Lui Nigro, Nakamura, Carolina Naomi Izo, de Souza Reis, Rodrigo, Toledo, Carmen Melo, Lage, Fernanda Stussi Duarte, de Almeida, Giovanna Bloise, do Nascimento Júnior, José Bandeira, Cardoso, Milena Andreuzo, de Paula Azevedo, Victor, de Almeida, Tatiana Ferreira, Cervato, Murilo Castro, de Oliveira Filho, Joao Bosco

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

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Additional file 1 of The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023 von Quaio, Caio Robledo D’Angioli Costa, Ceroni, José Ricardo Magliocco, Pereira, Michele Araújo, Teixeira, Anne Caroline Barbosa, Yamada, Renata Yoshiko, Cintra, Vivian Pedigone, Perrone, Eduardo, De França, Marina, Chen, Kelin, Minillo, Renata Moldenhauer, Biondo, Cheysa Arielly, de Mello, Mariana Rezende Bandeira, Moura, Lais Rodrigues, do Nascimento, Amanda Thamires Batista, de Oliveira Pelegrino, Karla, de Lima, Larissa Barbosa, do Amaral Virmond, Luiza, Moreno, Carolina Araujo, Prota, Joana Rosa Marques, de Araujo Espolaor, Jessica Grasiela, Silva, Thiago Yoshinaga Tonholo, Moraes, Gabriel Hideki Izuka, de Oliveira, Gustavo Santos, Moura, Livia Maria Silva, Caraciolo, Marcel Pinheiro, Guedes, Rafael Lucas Muniz, Gretschischkin, Michel Chieregato, Chazanas, Pedro Lui Nigro, Nakamura, Carolina Naomi Izo, de Souza Reis, Rodrigo, Toledo, Carmen Melo, Lage, Fernanda Stussi Duarte, de Almeida, Giovanna Bloise, do Nascimento Júnior, José Bandeira, Cardoso, Milena Andreuzo, de Paula Azevedo, Victor, de Almeida, Tatiana Ferreira, Cervato, Murilo Castro, de Oliveira Filho, Joao Bosco

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