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Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1.
Yis, Uluç; Uyanik, Gökhan; Rosendahl, Deborah Morris; Carman, Kürsat Bora; Bayram, Erhan; Heise, Marisol; Cömertpay, Gamze; Kurul, Semra Hiz.
  • Yis U; Dokuz Eylül University, School of Medicine, Department of Pediatrics, Division of Child Neurology, Izmir, Turkey. Electronic address: ulyis@yahoo.com.
  • Uyanik G; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Rosendahl DM; Institute of Human Genetics, Albert-Ludwigs University Medical Centre Freiburg, Freiburg, Germany.
  • Carman KB; Gaziantep Children's Hospital, Division of Child Neurology, Gaziantep, Turkey.
  • Bayram E; Dokuz Eylül University, School of Medicine, Department of Pediatrics, Division of Child Neurology, Izmir, Turkey.
  • Heise M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Cömertpay G; Department of Medical Biology, Faculty of Medicine, Balcali Hospital, University of Cukurova, Adana, Turkey.
  • Kurul SH; Dokuz Eylül University, School of Medicine, Department of Pediatrics, Division of Child Neurology, Izmir, Turkey.
Pediatr Neurol ; 50(5): 491-7, 2014 May.
Article en En | MEDLINE | ID: mdl-24731844
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encéfalo / N-Acetilglucosaminiltransferasas / Síndrome de Walker-Warburg Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male País como asunto: Asia Idioma: En Año: 2014 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Encéfalo / N-Acetilglucosaminiltransferasas / Síndrome de Walker-Warburg Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male País como asunto: Asia Idioma: En Año: 2014 Tipo del documento: Article