Yazar "Celik, Zerrin Yilmaz" için listeleme
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Autosomal Dominant Osteopetrosis Type II
Ozkan, Aslihan Kusvuran; Doruk, Pinar; Adam, Mehmet; Celik, Zerrin Yilmaz; Leblebici, Berrin (2015)Osteopetrosis is a rare genetic disorder caused by osteoclast failure. Dominant negative mutations of the ClCN7 gene cause the so-called, autosomal dominant osteopetrosis type II, which represents the most frequent and ... -
Effect of Hereditary Hemochromatosis Gene H63D and C282Y Mutations on Iron Overload in Sickle Cell Disease Patients
Terzi, Yunus Kasim; Balci, Tugce Bulakbasi; Boga, Can; Koc, Zafer; Celik, Zerrin Yilmaz; Ozdogu, Hakan; Karakus, Sema; Sahin, Feride Iffet (2016)Objective: Hemochromatosis is an autosomal recessive disease that is one of the most important reasons for iron overload. Sickle cell disease is a hemoglobinopathy that occurs as a result of a homozygous mutation in the ... -
Ethical Issues Encountered within the Context of an Adrenoleukodystrophy Case
Karabulut, Seyhan Demir; Yildirim, Rifat Vedat; Celik, Zerrin Yilmaz (2020)Adrenoleukodystrophy (ALD) is a disorder of peroxisomal fatty acid beta oxidation which results in the accumulation of very-long chain fatty acids in tissues throughout the body. The most severely affected tissues are the ... -
Immune and inflammatory genes possibly involved in the pathogenesis of severe COVID-19
Beksac, Burcu; Dincer, Selin Akad; Avdullahi, Egzon; Yaman, Derya; Terzi, Yunus Kasim; Babakurban, Seda Turkoglu; Celik, Zerrin Yilmaz; Tasci, Canturk; Sahin, Feride Iffet (2021) -
Increased nuchal translucency and pregnancy outcomes: experience of Baskent University Ankara Hospital
Uysal, Nihal Sahin; Gulumser, Cagri; Celik, Zerrin Yilmaz; Yanik, Filiz Bilgin (2019)Objective: First trimester nuchal translucency (NT) measurement is considered to be an important tool in antenatal follow-up. This study aimed to evaluate the outcomes of pregnancies with increased NT at Baskent University ... -
Investigation of Toll Like Receptor-7 Gene (TLR-7) Mutations in COVID-19 Patients
Dincer, Selin Akad; Beksac, Burcu; Avdullahi, Egzon; Yaman, Derya; Terzi, Yunus Kasim; Babakurban, Seda Turkoglu; Celik, Zerrin Yilmaz; Tasci, Canturk; Sahin, Feride Iffet (2021) -
MLPA Method does not Always Confirm the Results of aCGH: A Study of KANSL1 Gene Deletion Patients
Dincer, Selin Akad; Celik, Zerrin Yilmaz; Erol, Ilknur; Sahin, Feride Iffet (2022)Background: Microdeletion and microduplications are detected on chromosomes as a pathological subgroup of copy number variants of DNA. It has become easierto identify such chromosomal syndromes after use of array-based ... -
A newborn case diagnosed as isolated TBX1 deletion with 22q11 deletion syndrome
Turan, Ozden; Celik, Zerrin Yilmaz; Ince, Deniz Anuk; Terzi, Yunus Kasim; Ecevit, Ayse (2020)