Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Rafaela Rogerio Floriano de Sousa"'
Autor:
Rodrigo Fernandes Ramalho, Michele Groenner Penna, Wagner A.R. Baratela, Shirley Dezan Matalhana, Cintia Reys Furuzawa, Ana Lígia Buzolin, Gil M. Novo-Filho, Maria de Lourdes Lopes Ferrari Chauffaille, Aurelio Pimenta Dutra, Gustavo Marquezani Spolador, Vinícius Ceola Pereira, Aline Dos Santos Borgo Perazzio, Chong Ae Kim, Otavio Jose Eulalio Pereira, Ana Lúcia Catelani, Alexandre Ricardo dos Santos Fornari, Monize Nakamoto Provisor Santos, Javier Miguelez, Vanessa Galdeno Freitas, Vanessa Dionisio Cantagalli, Ana Carolina Gomes Trindade, Patricia Rossi Sacramento-Bobotis, Daniele Paixão, Caroline Olivati, Gustavo Arantes Rosa Maciel, Caio Robledo D'Angioli Costa Quaio, Mário Henrique Burlacchini de Carvalho, Elisa Napolitano Ferreira, Fernanda Verzini, Rafael Alves da Silva, Vanessa Yurie Nozaki de Arruda, David Santos Marco Antonio, Alexandre Wagner Silva de Souza, Naiade Romano, Viviane Z. Rocha, Caroline Monaco Moreira, Rafaela Rogerio Floriano de Sousa, Miguel Mitne-Neto, Matheus Carvalho Bürger, Sandro Félix Perazzio, Luis Eduardo Coelho Andrade, Maria Carolina Pintao, Andre Yuji Oku
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 184(4)
Rare diseases comprise a diverse group of conditions, most of which involve genetic causes. We describe the variable spectrum of findings and clinical impacts of exome sequencing (ES) in a cohort of 500 patients with rare diseases. In total, 164 prim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac1f1b47f0c825ea9c12a5db9076f3b2
https://pubmed.ncbi.nlm.nih.gov/33258288
https://pubmed.ncbi.nlm.nih.gov/33258288
Autor:
Gil Monteiro Novo Filho, Caroline Monaco Moreira, Caio Robledo D'Angioli Costa Quaio, Chong Ae Kim, Aurelio Pimenta Dutra, Rodrigo Fernandes Ramalho, Rafaela Rogerio Floriano de Sousa, Miguel Mitne-Neto, Patricia Rossi Sacramento-Bobo, Sandro Félix Perazzio, Rafael Alves da Silva, Michele Groenner Penna, Wagner A.R. Baratela
Publikováno v:
Molecular Genetics and Metabolism. 132:S73
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8f2fc7beec05facce9ff7d6b96a164f0
https://doi.org/10.1016/s1096-7192(21)00190-6
https://doi.org/10.1016/s1096-7192(21)00190-6
Autor:
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, de Souza, Rafaela Rogerio Floriano, Cintra, Vivian Pedigone, Carnavalli, Juliana Emilia Prior, da 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
Publikováno v:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics; Sep2021, Vol. 187 Issue 3, p364-372, 9p