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When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation.
Basel-Salmon, Lina; Ruhrman-Shahar, Noa; Orenstein, Naama; Goldberg, Yael; Gonzaga-Jauregui, Claudia; Shuldiner, Alan R; Sukenik-Halevy, Rivka; Maya, Idit; Magal, Nurit; Hagari, Ofir; Azulay, Noy; Lidzbarsky, Gabriel Arie; Bazak, Lily.
Afiliação
  • Basel-Salmon L; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel. basel@tauex.tau.ac.il.
  • Ruhrman-Shahar N; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel. basel@tauex.tau.ac.il.
  • Orenstein N; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. basel@tauex.tau.ac.il.
  • Goldberg Y; Felsenstein Medical Research Center, Petach Tikva, Israel. basel@tauex.tau.ac.il.
  • Gonzaga-Jauregui C; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
  • Shuldiner AR; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Sukenik-Halevy R; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
  • Maya I; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Magal N; Regeneron Genetics Center, Tarrytown, NY, USA.
  • Hagari O; Regeneron Genetics Center, Tarrytown, NY, USA.
  • Azulay N; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
  • Lidzbarsky GA; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Bazak L; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
Genet Med ; 23(1): 215-221, 2021 01.
Article em En | MEDLINE | ID: mdl-32801363
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Exoma Tipo de estudo: Prognostic_studies Limite: Child / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Israel
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Exoma Tipo de estudo: Prognostic_studies Limite: Child / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Israel