Bölüm "Fakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Anabilim Dalı" TR-Dizin İndeksli Yayınlar Koleksiyonu için listeleme
Toplam kayıt 2, listelenen: 1-2
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Genetic Diagnosis of Hereditary Hemorrhagic Telangiectasia: Four Novel Pathogenic Variations in Turkish Patients
(2020)Aims: Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder characterized by telangiectasia, epistaxis, and vascular malformations. Pathogenic mutations were found in ENG, AVCRL1, SMAD4, and GDF genes. ... -
Two Cases of Cystic Fibrosis with Compound Heterozygous Variants Reported for the First Time
(2020)[Abtract Not Available]