Hacettepe University Institutional Repository
Hacettepe University Institutional Repository is a growing collection of Hacettepe University’s research that includes peer-reviewed articles, technical reports, working papers, theses and more.
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(Springer/Plenum Publishers, 2012)We describe seven Turkish children with DOCK8 deficiency who have not been previously reported. Three patients presented with typical features of recurrent or severe cutaneous viral infections, atopic dermatitis, and ...
(Amer Soc Nephrology, 2016)Hereditary defects of coenzyme Q(10) biosynthesis cause steroid-resistant nephrotic syndrome (SRNS) as part of multiorgan involvement but may also contribute to isolated SRNS. Here, we report 26 patients from 12 families ...
(2015)Acute megakaryoblastic leukemia (AMKL) with t(1;22) (p13;q13) is an extremely rare subtype of acute myeloid leukemia that is almost always described in infants. t(1;22) (p13;q13)-positive AMKL with extramedullary infiltration ...
(Univ Chicago Press, 1998)Some beta-lactam antibiotics are active in vitro against Mycobacterium tuberculosis. There are anecdotal reports of successful treatment of tuberculosis caused by multiple-drug-resistant strains of M. tuberculosis with ...
Acute In Vitro Effects Of Abs (Ankaferd Hemostat) On The Lymphoid Neoplastic Cells (B-Cll And Raji Tumor Cell Lines) (Akad Doktorlar Yayinevi, 2014)ABS (Ankaferd Hemostat) has emerged as a novel haemostatic agent of plant origin. Its ability to interact with entire proteins including cell surface receptors and/or blood proteins plus tissue proteins revealed novel ...
Activation-Induced Cytidine Deaminase (Aid) Deficiency Causes The Autosomal Recessive Form Of The Hyper-Igm Syndrome (Higm2) (Cell Press, 2000)The activation-induced cytidine deaminase (AID) gene, specifically expressed in germinal center B cells in mice, is a member of the cytidine deaminase family. We herein report mutations in the human counterpart of AID in ...
Accounting For Genetic Heterogeneity In Homozygosity Mapping: Application To Mendelian Susceptibility To Mycobacterial Disease (B M J Publishing Group, 2011)Introduction Genome-wide homozygosity mapping is a powerful method for locating rare recessive Mendelian mutations. However, statistical power decreases dramatically in the presence of genetic heterogeneity. Methods The ...