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DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature.
Özsoy, Özlem; Cinleti, Tayfun; Günay, Çagatay; Sarikaya Uzan, Gamze; Yesilmen, Mehmet Can; Lochmüller, Hanns; Horvath, Rita; Yis, Uluç; Oktay, Yavuz; Hiz Kurul, Semra.
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  • Özsoy Ö; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey.
  • Cinleti T; Department of Pediatric Genetics, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey.
  • Günay Ç; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey.
  • Sarikaya Uzan G; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey.
  • Yesilmen MC; Department of Pediatric Neurology, Faculty of Medicine, Dokuz Eylül University, Izmir, Turkey.
  • Lochmüller H; CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Horvath R; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Yis U; Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Oktay Y; Division of Neurology, Department of Medicine, The Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
  • Hiz Kurul S; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK.
Mol Syndromol ; 14(4): 322-330, 2023 Aug.
Article en En | MEDLINE | ID: mdl-37766827
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Mol Syndromol Año: 2023 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Suiza
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Mol Syndromol Año: 2023 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Suiza