Browsing by Author "Tombul, Temel"
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Item Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype(VIA MEDICA, 2019-01-01) Akcakaya, Nihan Hande; Haryanyan, Garen; Mercan, Sevcan; Sozer, Nejla; Ali, Asuman; Tombul, Temel; Ozbek, Ugur; Iseri, Sibel Aylin Ugur; Yapici, ZuhalIntroduction. Pathogenic variations in C19orf12 are responsible for two allelic diseases: mitochondrial membrane protein-associated neurodegeneration (MPAN)