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SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.
Drabkin, Max; Jean, Matan M; Noy, Yael; Halperin, Daniel; Yogev, Yuval; Wormser, Ohad; Proskorovski-Ohayon, Regina; Dolgin, Vadim; Levaot, Noam; Brumfeld, Vlad; Ovadia, Shira; Kishner, Mor; Kazenell, Udi; Avraham, Karen B; Shelef, Ilan; Birk, Ohad S.
Afiliação
  • Drabkin M; The Morris Kahn Laboratory of Human Genetics, Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
  • Jean MM; The Morris Kahn Laboratory of Human Genetics, Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
  • Noy Y; Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
  • Halperin D; The Morris Kahn Laboratory of Human Genetics, Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
  • Yogev Y; The Morris Kahn Laboratory of Human Genetics, Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
  • Wormser O; The Morris Kahn Laboratory of Human Genetics, Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
  • Proskorovski-Ohayon R; The Morris Kahn Laboratory of Human Genetics, Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
  • Dolgin V; The Morris Kahn Laboratory of Human Genetics, Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
  • Levaot N; Department of Physiology and Cell Biology, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
  • Brumfeld V; Department of Chemical Research Support, Weizmann Institute of Science, Rehovot, Israel.
  • Ovadia S; Ben-Gurion University of the Negev, Beer-Sheva, Israel.
  • Kishner M; Department of Life Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
  • Kazenell U; Department of Otolaryngology, Head and Neck Surgery, Kaplan Medical Center, Rehovot, Israel.
  • Avraham KB; Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
  • Shelef I; Department of Radiology, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
  • Birk OS; The Morris Kahn Laboratory of Human Genetics, Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel obirk@bgu.ac.il.
J Med Genet ; 61(2): 117-124, 2024 Jan 19.
Article em En | MEDLINE | ID: mdl-37399313
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Otosclerose / Perda Auditiva Tipo de estudo: Etiology_studies Limite: Adult / Animals / Humans Idioma: En Revista: J Med Genet Ano de publicação: 2024 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: Otosclerose / Perda Auditiva Tipo de estudo: Etiology_studies Limite: Adult / Animals / Humans Idioma: En Revista: J Med Genet Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Israel