Yazar "Ulgen, Ege" için listeleme
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ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features
Caglayan, Ahmet Okay; Sezer, Rabia Gonul; Kaymakcalan, Hande; Ulgen, Ege; Yavuz, Taner; Baranoski, Jacob F.; Gunel, Murat (COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT, 2017)Primary cardiomyopathy is one of the most common inherited cardiac diseases and harbors significant phenotypic and genetic heterogeneity. Because of this, genetic testing has become standard in treatment of this disease ... -
Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy
Per, Huseyin; Canpolat, Mehmet; Bayram, Ayse Kacar; Ulgen, Ege; Baran, Burcin; Kardas, Fatih; Caglayan, Ahmet Okay (GEORG THIEME VERLAG KG, 2015)Tangier disease (TD) is a rare, autosomal recessive inherited disorder caused by a mutation in the adenosine triphosphate-binding cassette transporter 1 (ABCA1) gene, which results in a decrease in plasma high-density ...
