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Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.
Susgun, Seda; Kesim, Yesim; Khalilov, Dovlat; Sirin, Nermin Gorkem; Gezegen, Hasim; Salman, Baris; Yucesan, Emrah; Gokcay, Gulden; Korbeyli, Huseyin Kutay; Balci, Mehmet Cihan; Iseri, Sibel Aylin Ugur; Baykan, Betul; Bebek, Nerses.
Afiliación
  • Susgun S; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
  • Kesim Y; Graduate School of Health Sciences, Istanbul University, Istanbul, Turkey.
  • Khalilov D; Department of Medical Biology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey.
  • Sirin NG; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
  • Gezegen H; Graduate School of Health Sciences, Istanbul University, Istanbul, Turkey.
  • Salman B; Department of Biological and Medical Sciences, Faculty of Health and Life Sciences, Oxford Brooks University, Oxford, UK.
  • Yucesan E; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Gokcay G; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Korbeyli HK; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Balci MC; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
  • Iseri SAU; Graduate School of Health Sciences, Istanbul University, Istanbul, Turkey.
  • Baykan B; Department of Neurogenetics, Institute of Neurological Sciences, Istanbul University-Cerrahpasa, Istanbul, Turkey.
  • Bebek N; Department of Pediatrics, Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Neurol Sci ; 44(7): 2527-2540, 2023 Jul.
Article en En | MEDLINE | ID: mdl-36849695

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hermanos / Trastornos del Neurodesarrollo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Humans Idioma: En Revista: Neurol Sci Asunto de la revista: NEUROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Italia

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Hermanos / Trastornos del Neurodesarrollo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Humans Idioma: En Revista: Neurol Sci Asunto de la revista: NEUROLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Italia