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  1. No Access

    Article

    Clinical and Molecular Manifestations of Congenital Muscular Alpha-Dystroglycanopathy due to an ISPD Gene Mutation

    Congenital muscular alpha-dystroglycanopaties (MDDGAs) are rare congenital muscular dystrophies that are accompanied by a variety of brain and eye malformations. More than 19 gene mutations have been identifie...

    P. Gençpınar, G. Uyanık, Ş. Haspolat, N. Oygür, Ö. Duman in Neurophysiology (2019)

  2. Article

    Open Access

    PReS-FINAL-2212: Mevalonate kinase deficiency: different faces with separate treatments

    P Gençpınar, E Ünsal, B Makay in Pediatric Rheumatology (2013)

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