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Öğe Clinical features and risk factors for childhood asthma exacerbations(WILEY-BLACKWELL, 2010) Karagöl, Cüneyt; Keleş, Sevgi; Göktürk, B.; Kirac, M.; Artaç, Hasibe; Reisli, İsmail[Abstract not Available]Öğe Di George Syndrome: Clinical Heterogeneity Can Hamper the Diagnosis(Wiley-Blackwell, 2010) Göktürk, B.; Artaç, H.; Keleş, S.; Yıldırım, S.; Kara, R.; Kıraç, M.; Reisli, I.[Abstract not Available]Öğe Swine Influenza a (H1N1) Infections in Patients with Primary Immunodeficiency(WILEY-BLACKWELL, 2010) Kıraç, M.; Göktürk, B.; Keleş, S.; Artaç, H.; Reisli, I.[Abstract not Available]Öğe Thrombocyte Volume and Count in Digeorge Syndrome(SPRINGER/PLENUM PUBLISHERS, 2012) Göktürk, B.; Reisli, I.; Kıraç, M.; Keleş, S.; Artaç, H.; Yıldırım, S.[Abstract not Available]Öğe Type III Bare Lymphocyte Syndrome Associated with a Novel RFXAP Mutation: A Case Report(WILEY-BLACKWELL, 2012) Göktürk, B.; Artaç, H.; van Eggermond, M. J.; van den Elsen, P.; Reisli, İ.Type III bare lymphocyte syndrome (BLS) is a severe combined immunodeficiency disease caused by the absence of MHC Class II expression associated with low expression of class I molecules. Here, we report a case with type III BLS who lacked RFXAP (Regulatory factor X-associated protein) expression as a result from a novel mutation introducing a premature stopcodon in DE-region at amino acid 73.
