Açık Akademik Arşiv Sistemi

Browsing Tıp Fakültesi by Author "Hacer Durmus"

Browsing Tıp Fakültesi by Author "Hacer Durmus"

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  • A database for screening and registering late onset Pompe disease in Turkey 
    Munevver Celik Gokyigit; Hakan Ekmekci; Hacer Durmus; Necdet Karll; Emel Koseoglu; Fikret Aysal; Kotan Dündar, Dilcan; Asuman Ali; Pinar Kahraman Koytak; Hatice Karasoy; Aylin Yaman; Ihsan Sukru Sengun; Refah Sayin; Bedile Irem Tiftikcioglu; Aysun Soysal; Kemal Tutkavul; Ayse Oytun Bayrak; Aysin Kisabay; Mehmet Ali Elci; Vildan Yayla; Ibrahim Arda Yilmaz; Sevim Erdem Ozdamar; Cagdas Erdogan; Nebahat Tasdemir; Piraye Serdaroglu Oflazer (PERGAMON-ELSEVIER SCIENCE LTD, 2018)
    Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic ...
  • The distinct genetic pattern of ALS in Turkey and novel mutations 
    Aslihan Ozoguz; Ozgun Uyan; Gunes Birdal; Ceren Iskender; Ece Kartal; Suna Lahut; Ozgur Omur; Zeynep Sena Agim; Asli Gundogdu Eken; Nesli Ece Sen; Pinar Kavak; Ceren Saygi; Peter C. Sapp; Pamela Keagle; Yesim Parman; Ersin Tan; Filiz Koc; Feza Deymeer; Piraye Oflazer; Hasmet Hanagasi; Hakan Gurvit; Basar Bilgic; Hacer Durmus; Mustafa Ertas; Kotan Dündar, Dilcan (ELSEVIER SCIENCE INC, 2015)
    The frequency of amyotrophic lateral sclerosis (ALS) mutations has been extensively investigated in several populations; however, a systematic analysis in Turkish cases has not been reported so far. In this study, we ...