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Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.
Özyilmaz, Berk; Kirbiyik, Özgür; Özdemir, Taha R; Kaya Özer, Özge; Kutbay, Yasar B; Erdogan, Kadri M; Güvenç, Merve Saka; Kale, Murat Yildirim; Gazeteci, Hande; Kiliç, Betül; Sertpoyraz, Filiz; Diniz, Gulden; Baydan, Figen; Gençpinar, Pinar; Dündar, Nihal Olgaç; Yis, Uluç.
Afiliação
  • Özyilmaz B; Genetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey.
  • Kirbiyik Ö; Neuromuscular Disorders Unit, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey.
  • Özdemir TR; Genetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey.
  • Kaya Özer Ö; Genetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey.
  • Kutbay YB; Genetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey.
  • Erdogan KM; Genetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey.
  • Güvenç MS; Genetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey.
  • Kale MY; Genetic Diagnosis Center, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey.
  • Gazeteci H; Neuromuscular Disorders Unit, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey.
  • Kiliç B; Pediatric Neurology, Cigli District Training Hospital, Izmir, Turkey.
  • Sertpoyraz F; Pediatric Neurology, Derince Education Research Hospital, Kocaeli, Turkey.
  • Diniz G; Neuromuscular Disorders Unit, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey.
  • Baydan F; Department of Pathology, Izmir Democracy University, Izmir, Turkey.
  • Gençpinar P; Neuromuscular Disorders Unit, Tepecik Training and Research Hospital, University of Health Sciences, Izmir, Turkey.
  • Dündar NO; Pediatric Neurology, Faculty of Medicine, Izmir Katip Celebi University, Izmir, Turkey.
  • Yis U; Pediatric Neurology, Faculty of Medicine, Izmir Katip Celebi University, Izmir, Turkey.
Ann Hum Genet ; 83(5): 331-347, 2019 09.
Article em En | MEDLINE | ID: mdl-31066050
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise de Sequência de DNA / Distrofia Muscular do Cíngulo dos Membros / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Análise de Sequência de DNA / Distrofia Muscular do Cíngulo dos Membros / Sequenciamento de Nucleotídeos em Larga Escala Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article