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Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactyly.
Basel-Salmon, Lina; Ruhrman-Shahar, Noa; Barel, Ortal; Hagari, Ofir; Marek-Yagel, Dina; Azulai, Noy; Bazak, Lily; Svirsky, Ran; Reznik-Wolf, Haike; Lidzbarsky, Gabriel Arie; Shohat, Mordechai.
Affiliation
  • Basel-Salmon L; Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Felsenstein Medical Research Center
  • Ruhrman-Shahar N; Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel. Electronic address: r_noa@hotmail.com.
  • Barel O; Genomic Center, Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel.
  • Hagari O; Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel.
  • Marek-Yagel D; Genomic Center, Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel.
  • Azulai N; Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel.
  • Bazak L; Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel.
  • Svirsky R; Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Reznik-Wolf H; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel.
  • Lidzbarsky GA; Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel.
  • Shohat M; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Genomic Center, Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel; Maccabi Health Maintenance Organization, Rehovot, Israel.
Eur J Med Genet ; 64(2): 104124, 2021 Feb.
Article in En | MEDLINE | ID: mdl-33359164
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spine / Transcription Factors / Polydactyly / Fetus / Heart Defects, Congenital Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male / Pregnancy Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2021 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spine / Transcription Factors / Polydactyly / Fetus / Heart Defects, Congenital Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male / Pregnancy Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2021 Document type: Article