Hasil Pencarian - Caroline Monaco Moreira

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  1. 1
    Exome sequencing of 500 Brazilian patients with rare diseases: what we have learned

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

    Diterbitkan 2022-09-01
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  2. 2
    Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology

    Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology oleh 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

    Diterbitkan 2017-06-01
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  3. 3
    Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR?

    Evaluation of pathogenic variants detected in high homology regions of the PMS2 gene. How effective is long-range PCR? oleh Daniele Paixão, Thalitta Hetamaro Ayala Lima, Rafaela Rogério Floriano de Souza, Juliana Emilia Prior Carnavalli, Clarissa Gondim Picanço-Albuquerque, Isabelle Joyce de Lima Silva-Fernandes, Paulo Goberlânio de Barros Silva, Miguel Mitne-Neto, Caroline Mônaco Moreira, Wagner Antônio da Rosa Baratela

    Diterbitkan 2024-06-01
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  4. 4
    Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases

    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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  5. 5
    P075: Evaluation of PMS2 gene variant c.2182_2184delinsG by NGS in a Brazilian sample: How long-range PCR can solve homology?

    P075: Evaluation of PMS2 gene variant c.2182_2184delinsG by NGS in a Brazilian sample: How long-range PCR can solve homology? oleh Daniele Paixão, Thalitta Hetamaro Ayala Lima, Larissa Souza Mario Bueno, Rafaela Rogério Floriano de Souza, Juliana Emilia Prior Carnavalli, Clarissa Gondim Picanço-Albuquerque, Isabelle Joyce de Lima Silva-Fernandes, Paulo Goberlânio de Barros Silva, Miguel Mitne-Neto, Wagner Antônio da Rosa Baratela, Caroline Mônaco Moreira

    Diterbitkan 2023-01-01
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  6. 6
    Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases

    Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases oleh 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

    Diterbitkan 2021-09-01
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