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Published in Arquivos de gastroenterologia (2024)
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Published in Frontiers in oncology (18.06.2024)
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Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases
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Published in Genetics and molecular biology (01.01.2021)
Published in Genetics and molecular biology (01.01.2021)
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P075: Evaluation of PMS2 gene variant c.2182_2184delinsG by NGS in a Brazilian sample: How long-range PCR can solve homology?
Paixão, Daniele, Lima, Thalitta Hetamaro Ayala, Bueno, Larissa Souza Mario, de Souza, Rafaela Rogério Floriano, Carnavalli, Juliana Emilia Prior, Picanço-Albuquerque, Clarissa Gondim, de Lima Silva-Fernandes, Isabelle Joyce, de Barros Silva, Paulo Goberlânio, Mitne-Neto, Miguel, da Rosa Baratela, Wagner Antônio, Moreira, Caroline Mônaco
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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eP105 - Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases
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Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases
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Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients
Quaio, Caio Robledo D'Angioli Costa, Chung, Christine Hsiaoyun, Perazzio, Sandro Felix, Dutra, Aurelio Pimenta, Moreira, Caroline Monaco, Filho, Gil Monteiro Novo, Sacramento‐Bobotis, Patricia Rossi, Penna, Michele Groenner, Souza, Rafaela Rogerio Floriano, Cintra, Vivian Pedigone, Carnavalli, Juliana Emilia Prior, Silva, Rafael Alves, Paixão, Daniele, Baratela, Wagner Antonio da Rosa, Olivati, Caroline, Spolador, Gustavo Marquezani, Santos, Monize Nakamoto Provisor, Pintao, Maria Carolina, Fornari, Alexandre Ricardo dos Santos, Burger, Matheus, Ramalho, Rodrigo Fernandes, Pereira, Otavio Jose Eulalio, Ferreira, Elisa Napolitano, Mitne‐Neto, Miguel, Kim, Chong Ae
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2021)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2021)
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ODP547 Familial Carney Complex: Follow Up of a Family With Negative PRKAR1A Genetic Screening
Araújo, Jacqueline Montalvão, Cançado, Natalia Amaral, Cherniauskas de Souza Morikawa, Vanessa, Asato, Marilia Tomiyoshi, Antonio da Rosa Baratela, Wagner, Bueno, Cristina Belotti Formiga, da Cunha Scalço Tirapelli, Renata, Dolci, Ricardo Landini Lutaif, Leite dos Santos, Americo Rubens, da Silva, Maria Antonieta Longo Galvão, Krakauer, Rogerio, Scalissi, Nilza Maria, Lima Junior, Jose Viana
Published in Journal of the Endocrine Society (01.11.2022)
Published in Journal of the Endocrine Society (01.11.2022)
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