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DEGS1 variant causes neurological disorder.
Dolgin, Vadim; Straussberg, Rachel; Xu, Ruijuan; Mileva, Izolda; Yogev, Yuval; Khoury, Raed; Konen, Osnat; Barhum, Yael; Zvulunov, Alex; Mao, Cungui; Birk, Ohad S.
Afiliação
  • Dolgin V; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, 84105, Israel.
  • Straussberg R; Neurogenetics Clinic, Neurology Unit, Schneider Children Medical Center, Petah Tikvah, Israel.
  • Xu R; Department of Medicine and Stony Brook Cancer Center, The State University of New York at Stony Brook, Stony Brook, New York, 11794, USA.
  • Mileva I; Department of Medicine and Stony Brook Cancer Center, The State University of New York at Stony Brook, Stony Brook, New York, 11794, USA.
  • Yogev Y; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, 84105, Israel.
  • Khoury R; Department of Dermatology, Soroka University Medical Center, Beer-Sheva, 84101, Israel.
  • Konen O; Radiology Department, Schneider Children Medical Center, Petah Tikvah, Israel.
  • Barhum Y; Transplantation Immunology Laboratory, Rabin Medical Center, Petah Tikvah, Israel.
  • Zvulunov A; Department of Dermatology, Soroka University Medical Center, Beer-Sheva, 84101, Israel.
  • Mao C; Department of Medicine and Stony Brook Cancer Center, The State University of New York at Stony Brook, Stony Brook, New York, 11794, USA.
  • Birk OS; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, 84105, Israel. obirk@bgu.ac.il.
Eur J Hum Genet ; 27(11): 1668-1676, 2019 11.
Article em En | MEDLINE | ID: mdl-31186544
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Predisposição Genética para Doença / Ácidos Graxos Dessaturases / Doenças do Sistema Nervoso Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Predisposição Genética para Doença / Ácidos Graxos Dessaturases / Doenças do Sistema Nervoso Idioma: En Ano de publicação: 2019 Tipo de documento: Article