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Nörofibromatozis Tip1 ile İlişkili Tümörlerde Koronin 1A İfadesinin Belirlenmesi
(Sağlık Bilimleri Enstitüsü, 2012)
Neurofibromatosis Type 1 (NF1) is an autosomal dominant disorder characterized by pigmentation abnormalities, failure of skeleton and cardiovascular system with predisposition of tumorogenesis. Nf1 gene product neurofibromin ...
Desmin Geni C.1289-2a>G Mutasyonunun Desmin Proteinine Etkisinin İncelenmesi
(Sağlık Bilimleri Enstitüsü, 2012)
Autosomal recessive limb girdle muscular dystrophy (LGMD2) is clinically and genetically heterogeneous group of diseases that are characterized by progressive atrophy and weakness of proximal muscles. Two siblings of a ...
Çocukluk Dönemi Steroide Dirençli Nefrotik Sendroma Sebep Olan Yeni Genlerin Bulunması
(Sağlık Bilimleri Enstitüsü, 2012)
Steroid resistant nephrotic syndrome (SRNS), despite being a rare disease, is the second most common cause of end stage kidney failure in childhood and early adulthood. However the heterogeneity and rarity (<1%) of disease ...
Kolşisinin Pyrin ve Pyrin ile Ilişkili Proteinler Üzerine Etkisi
(Sağlık Bilimleri Enstitüsü, 2012)
MEFV which encodes pyrin, causes familial Mediterranean fever (FMF), the most common auto-inflammatory disease. Pyrin is believed to be a regulator of inflammation, though the nature of this regulatory activity remains to ...
Kistik Fibrozisli Hastalarda Anaerop Bakterilerin Rolünün Araştırılması
(Tıp Fakültesi, 2012)
Pseudomonas aeruginosa, Staphylococcus aureus, Haemophilus
influenzae and Burkholderia cepacia complex are the most frequently
isolated microorganisms from respiratory tract samples of the cystic
fibrosis patients. ...
Mutation Analysis Of Nphs1 In A Worldwide Cohort Of Congenital Nephrotic Syndrome Patients
(Karger, 2012)
Background: Congenital nephrotic syndrome (CNS) is defined as nephrotic syndrome that manifests within the first 3 months of life. Mutations in the NPHS1 gene encoding nephrin, are a major cause for CNS. Currently, more ...
Escmid* Guideline For The Diagnosis And Management Of Candida Diseases 2012: Diagnostic Procedures
(Elsevier Sci Ltd, 2012)
Clin Microbiol Infect 2012; 18 (Suppl. 7): 918 Abstract As the mortality associated with invasive Candida infections remains high, it is important to make optimal use of available diagnostic tools to initiate antifungal ...
Epidemiologic Trends In Hbv Infections At A Reference Centre In Turkey: An 11-Year Retrospective Analysis
(Elsevier Espana, 2012)
Objective. To identify changes in hepatitis B epidemiology after the implementation of the nationwide vaccination program in Turkey, hepatitis B virus (HBV) and related tests performed over a period of 11 years (2000-2010) ...