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Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations.
Öztürk, Selcan; Güleç, Ayten; Erdogan, Murat; Demir, Mikail; Canpolat, Mehmet; Gümüs, Hakan; Çaglayan, Ahmet Okay; Dündar, Munis; Per, Hüseyin.
Afiliación
  • Öztürk S; Fellow in Pediatric Neurology, Faculty of Medicine, Division of Pediatric Neurology, Department of Pediatrics, Erciyes University, Kayseri, Turkey.
  • Güleç A; Fellow in Pediatric Neurology, Faculty of Medicine, Division of Pediatric Neurology, Department of Pediatrics, Erciyes University, Kayseri, Turkey.
  • Erdogan M; Medical Doctor, Department of Medical Genetics, Kayseri State Hospital, Kayseri, Turkey.
  • Demir M; Medical Doctor, Faculty of Medicine, Department of Medical Genetics, Erciyes University, Kayseri, Turkey.
  • Canpolat M; Professor of Pediatrics, Faculty of Medicine, Division of Pediatric Neurology, Department of Pediatrics, Erciyes University, Kayseri, Turkey.
  • Gümüs H; Professor of Pediatrics, Faculty of Medicine, Division of Pediatric Neurology, Department of Pediatrics, Erciyes University, Kayseri, Turkey.
  • Çaglayan AO; Professor of Genetics, Faculty of Medicine, Department of Genetics, Dokuz Eylül University, Izmir, Turkey.
  • Dündar M; Professor of Genetics, Faculty of Medicine, Department of Genetics, Erciyes University, Kayseri, Turkey.
  • Per H; Professor of Pediatrics, Faculty of Medicine, Division of Pediatric Neurology, Department of Pediatrics, Erciyes University, Kayseri, Turkey. Electronic address: huseyinper@yahoo.com.
Pediatr Neurol ; 136: 43-49, 2022 11.
Article en En | MEDLINE | ID: mdl-36099689
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndromes Miasténicos Congénitos Tipo de estudio: Diagnostic_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Humans / Infant / Newborn País/Región como asunto: Asia Idioma: En Revista: Pediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2022 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndromes Miasténicos Congénitos Tipo de estudio: Diagnostic_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Humans / Infant / Newborn País/Región como asunto: Asia Idioma: En Revista: Pediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2022 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Estados Unidos