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The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
Pehlivan, Davut; Beck, Christine R; Okamoto, Yuji; Harel, Tamar; Akdemir, Zeynep H C; Jhangiani, Shalini N; Withers, Marjorie A; Goksungur, Meryem Tuba; Carvalho, Claudia M B; Czesnik, Dirk; Gonzaga-Jauregui, Claudia; Wiszniewski, Wojciech; Muzny, Donna M; Gibbs, Richard A; Rautenstrauss, Bernd; Sereda, Michael W; Lupski, James R.
Afiliação
  • Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Beck CR; Section of Pediatric Neurology, Texas Children's Hospital, Houston, Texas, USA.
  • Okamoto Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Harel T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Withers MA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Goksungur MT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Carvalho CM; Department of Neurology, Istanbul University, Istanbul Medical Faculty, Istanbul, Turkey.
  • Czesnik D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Gonzaga-Jauregui C; Department of Clinical Neurophysiology, University Medical Center Göttingen, Göttingen, Germany.
  • Wiszniewski W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Rautenstrauss B; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Sereda MW; Medizinisch Genetisches Zentrum, Munich, Germany.
  • Lupski JR; Deceased; Obituary-Neuromuscular Disorders 2015;25:725-726..
Genet Med ; 18(5): 443-51, 2016 05.
Article em En | MEDLINE | ID: mdl-26378787
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polineuropatias / Doença de Charcot-Marie-Tooth / Proteínas Mitocondriais / GTP Fosfo-Hidrolases / Proteínas da Mielina Tipo de estudo: Prognostic_studies Limite: Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polineuropatias / Doença de Charcot-Marie-Tooth / Proteínas Mitocondriais / GTP Fosfo-Hidrolases / Proteínas da Mielina Tipo de estudo: Prognostic_studies Limite: Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos