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  1. 1
    Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis

    Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis od Marina de França, Maria de Fátima de Faria Soares, Ana Luiza Pilla Luce, Eduardo Perrone

    Wydane 2020
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  2. 2
    Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review

    Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review od Eduardo Perrone, Thiago R. Cavole, Manuella G. Oliveira, Luiza do Amaral Virmond, Marina de França B. Silva, Maria de Fátima Soares, Simone Iglesias, Ariane Falconi, Juliana Saragiotto Silva, Viviane Nakano, Maria Fernanda Grillo Milanezi, Carmen Mendes, Marco A. Curiati, Cecília Micheletti

    Wydane 2020
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  3. 3
    An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son

    An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son od Ana Eduarda Campos, Carla Rosenberg, Ana Cristina Victorino Krepischi, Marina de França, Vanessa Lopes, Viviane Nakano, Tânia Vertemati, Marcos Cochak, Michele Patricia Migliavacca, Fernanda Milanezi, Ana Cristina Sousa, Juliana Silva, L. P. VIEIRA, Priscilla Monfredini, Ana Carolina Palumbo, Jonathas Fernandes, Eduardo Perrone

    Wydane 2021
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  4. 4
    Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review

    Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review od Perrone, Eduardo, Cavole, Thiago R., Oliveira, Manuella G., Virmond, Luiza do A., Silva, Marina de França B., Soares, Maria de Fatima F., Iglesias, Simone Brasil de O., Falconi, Ariane, Silva, Juliana S., Nakano, Viviane, Milanezi, Maria Fernanda, Mendes, Carmen Silvia C., Curiati, Marco Antonio, Micheletti, Cecília

    Wydane 2020
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  5. 5
    Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review

    Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review od Perrone, Eduardo, Cavole, Thiago R., Oliveira, Manuella G., Virmond, Luiza do A., Silva, Marina de França B., Soares, Maria de Fatima F., Iglesias, Simone Brasil de O., Falconi, Ariane, Silva, Juliana S., Nakano, Viviane, Milanezi, Maria Fernanda, Mendes, Carmen Silvia C., Curiati, Marco Antonio, Micheletti, Cecília

    Wydane 2020
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    Online
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  6. 6
    ACMG Secondary Findings in the Brazilian Rare Genomes Project: Insights from 5,402 genome sequencing

    ACMG Secondary Findings in the Brazilian Rare Genomes Project: Insights from 5,402 genome sequencing od Eduardo Perrone, Luiza do Amaral Virmond, Antônio Victor Campos Coelho, Marina de França, Carolina Moreno, Joana Rosa Marques Prota, Jessica Grasiela de Araujo Espolaor, Michele Patricia Migliavacca, Thiago Yoshinaga Tonholo Silva, Caio Robledo D’Angioli Costa Quaio, José Ricardo Magliocco Ceroni, Kelin Chen, Renata Moldenhauer Minillo, Anne Caroline Barbosa Teixeira, Renata Yoshiko Yamada, Vívian Pedigone Cintra, Lucas Santos de Santana, Gabriela Pereira Campilongo, Renata Silva, Karla Pelegrino, João Bosco Oliveira, Tatiana Ferreira de Almeida

    Wydane 2025
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  7. 7
    ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing

    ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing od Eduardo Perrone, Luiza do Amaral Virmond, Antônio Victor Campos Coelho, Marina de França, Carolina Moreno, Joana Rosa Marques Prota, Jessica Grasiela de Araujo Espolaor, Michele Patricia Migliavacca, Thiago Yoshinaga Tonholo Silva, Caio Robledo D’Angioli Costa Quaio, José Ricardo Magliocco Ceroni, Kelin Chen, Renata Moldenhauer Minillo, Anne Caroline Barbosa Teixeira, Renata Yoshiko Yamada, Vívian Pedigone Cintra, Lucas Santos de Santana, Gabriela Pereira Campilongo, Renata Silva, Karla de Oliveira Pelegrino, João Bosco Oliveira, Tatiana Ferreira de Almeida

    Wydane 2025
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  8. 8
    Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes

    Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes od Caio Robledo D’ Angioli Costa Quaio, Antônio Victor Campos Coelho, Livia Maria Silva Moura, Rafael Lucas Muniz Guedes, Kelin Chen, José Ricardo Magliocco Ceroni, Renata Moldenhauer Minillo, Marcel Pinheiro Caraciolo, Rodrigo de Souza Reis, Bruna Mascaro Cordeiro de Azevedo, Maria Soares Nóbrega, Anne Caroline Barbosa Teixeira, Matheus Martinelli Lima, Thamara Rayssa da Mota, Marina Cadena da Matta, Gabriela Borges Cherulli Colichio, Aline Lulho Roncalho, Ana Flavia Martinho Ferreira, Gabriela Pereira Campilongo, Eduardo Perrone, Luiza do Amaral Virmond, Carolina Moreno, Joana Rosa Marques Prota, Marina de França, Murilo Castro Cervato, Tatiana Ferreira de Almeida, João Bosco Oliveira

    Wydane 2022
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  9. 9
    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy od Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan Ghayoor Karimiani, Anna‐Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrósio Fock, Christian Beetz, Claudia Ruivenkamp, Alison Eaton, Francois D Morneau-Jacob, Lena Sagi‐Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad‐Halloun, D.J. Kamphuis, Cacha Peeters‐Scholte, Semra Hız Kurul, Rita Horváth, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M. Muir, Abolfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna Povolotskaya, V. Yu. Voinova, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Fowzan S. Alkuraya, Heather C. Mefford, Majid Alfadhel, Tobias B. Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst‐Hofstee, Henry Houlden

    Wydane 2022
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  10. 10
    The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023

    The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023 od Caio Robledo D’Angioli Costa Quaio, José Ricardo Magliocco Ceroni, Michele Araújo Pereira, Anne Caroline Barbosa Teixeira, Renata Yoshiko Yamada, Vívian Pedigone Cintra, Eduardo Perrone, Marina de França, Kelin Chen, Renata Moldenhauer Minillo, Cheysa Arielly Biondo, Mariana Rezende Bandeira de Mello, Laís Rodrigues Moura, Amanda Thamires Batista do Nascimento, Karla de Oliveira Pelegrino, Larissa Barbosa de Lima, Luiza do Amaral Virmond, Carolina 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, Giovanna Bloise de Almeida, José Bandeira do Nascimento Júnior, Milena Andreuzo Cardoso, Victor de Paula Azevedo, Tatiana Ferreira de Almeida, Murilo Castro Cervato, João Bosco Oliveira

    Wydane 2023
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  11. 11
    Additional file 1 of The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023

    Additional file 1 of The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023 od Caio Robledo D’Angioli Costa Quaio, José Ricardo Magliocco Ceroni, Michele Araújo Pereira, Anne Caroline Barbosa Teixeira, Renata Yoshiko Yamada, Vívian Pedigone Cintra, Eduardo Perrone, Marina de França, Kelin Chen, Renata Moldenhauer Minillo, Cheysa Arielly Biondo, Mariana Rezende Bandeira de Mello, Laís Rodrigues Moura, Amanda Thamires Batista do Nascimento, Karla de Oliveira Pelegrino, Larissa Barbosa de Lima, Luiza do Amaral Virmond, Carolina 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, Giovanna Bloise de Almeida, José Bandeira do Nascimento Júnior, Milena Andreuzo Cardoso, Victor de Paula Azevedo, Tatiana Ferreira de Almeida, Murilo Castro Cervato, João Bosco Oliveira

    Wydane 2023
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