Browsing Dahili Tıp Bilimleri Bölümü Tez Koleksiyonu by Department "Tıbbi Genetik"
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Ailesel Hiperkolesteroleminin Genetik Nedenlerinin Araştırılması
(Tıp Fakültesi, 2022)Familial hypercholesterolemia is a genetic disease characterized by high plasma cholesterol levels and early cardiovascular disease development. Main objectives of the study were to evaluate the genetic causes of familial ... -
Karakterize Edilemeyen Kalıtsal Kemik İliği Yetmezliklerinde Genetik Nedenlerin Araştırılması
(Tıp Fakültesi, 2022)Inherited Bone Marrow Failure Syndromes (IBMFSs) are a heterogeneous group of disorders that result from deficiency of in a single or more hemapoetic cell lineages. Fanconi Anemia, Dyskeratosis Congenita, Shwachman Diamond ... -
Okulo-Aurikulo-Vertebral Spektrum Eyolojisinde Genetik Nedenlerin Araştırılması
(Tıp Fakültesi, 2018)Oculo-Auriculo-Vertebral Spectrum (OAVS) is a genetically and phenotypically heterogeneous disorder which occurs due to a developmental defect in the first and second pharyngeal arches. In this study, 23 OAVS patients ... -
Shwachman-Diamond Sendromuna Neden Olan Genetik Etyolojinin Belirlenmesi
(Tıp Fakültesi, 2020)Shwachman-Diamond syndrome (SDS, OMIM #260400) is an autosomal recessive disorder characterized by exocrine pancreatic dysfunction, skeletal manifestations, bone marrow failure, increased risk for myelodysplastic syndrome ...