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BTD gene mutations in biotinidase deficiency: genotype-phenotype correlation
O Oz, M Karaca, N Atas, A Gonel, M Ercan
JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN 31 (7), 2021
112021
Clinical and exome sequencing findings in seven children with Bardet–Biedl syndrome from Turkey
E Gumus, E Tuncez, O Oz, M Saka Guvenc
Annals of Human Genetics 85 (1), 27-36, 2021
82021
Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia
A Kiraz, O Sezer, A Alemdar, S Canbek, N Duman, A Bisgin, T Cora, ...
Journal of medical virology 95 (2), e28457, 2023
62023
Investigation of hereditary cancer predisposition genes of patients with colorectal cancer: single-Centre experience
N Duzkale, O Oz, TT Turkmenoglu, K Cetinkaya, T Eren, S Yalcin
J. Coll. Physicians Surg. Pak 30, 811-816, 2021
62021
Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey
M Ercan, ED Akbulut, O Oz, N Ataş, M Karaca, FM Yılmaz
Journal of Pediatric Endocrinology and Metabolism 34 (1), 89-94, 2021
62021
Evaluation of Y chromosome microdeletions and chromosomal anomalies in infertile men
O Oz
Hormone Molecular Biology and Clinical Investigation 42 (3), 279-283, 2021
52021
Effects of a PPAR-gamma receptor agonist and an angiotensin receptor antagonist on aortic contractile responses to alpha receptor agonists in diabetic and/or hypertensive rats …
I Tugrul, T Dost, O Demir, F Gokalp, O Oz, N Girit, M Birincioglu
Cardiovascular Journal of Africa 27 (3), 164-169, 2016
52016
The mutation of CD27 deficiency presented with familial hodgkin lymphoma and a review of the literature
D Köse, A Güzelçiçek, Ö Öz, AY Erdem, Y Haliloğlu, M Witzel, C Klein, ...
Journal of Pediatric Hematology/Oncology 44 (4), e833-e843, 2022
42022
A pilot study for investigation of plasma amino acid profile in neurofibromatosis type 1 patients
O Oz, I Koyuncu, A Gonel
Combinatorial Chemistry & High Throughput Screening 25 (1), 114-122, 2022
32022
Identification of PSEN1 and PSEN2 gene variants and clinical findings with the literature
N Randa, E Bora, E Ataman, O Öz, G Yener
Int. J. Neurodegener. Disord 8 (10.23937), 2019
32019
Amino acid metabolism disorders and PAH gene mutations in Southeastern Anatolia Region
Ö Öz, ED Akbulut, ME Karadağ, A Gönel, İ Koyuncu
Turkish Journal of Biochemistry 46 (4), 387-392, 2021
22021
A Novel Mutation in Neurofibromatosis Type 1 with Optic Glioma
OZ Ozlem
Oncologie 22 (3), 2020
22020
Investigation of chromosomal anomalies and copy number variations in children diagnosed with autism spectrum disorder by array CGH method
F Kılıçaslan, Ö Öz, MB Mutlu
International Journal of Developmental Neuroscience 85 (1), e10397, 2025
12025
Analytical Interference with Contrast Agents in Genetic Test Result for Thrombophilia
O Oz, A Gonel
Letters in Drug Design & Discovery 21 (4), 823-827, 2024
12024
The Association between Parameters of Erythrocytes Morphology and Thrombophilia-related Mutations
O Oz, A Gonel
Reviews on Recent Clinical Trials 17 (1), 40-45, 2022
12022
Prenatal sonographic findings associated with trisomy 13 and 18; report of prenatally diagnosed cases in a single center
E EKMEKCİ, ÖZ Özlem, E TUNÇEZ, F ERCAN, E DEMİR
Pamukkale Tıp Dergisi 14 (1), 125-129, 2021
12021
Investigation of the effects of biotinidase deficiency on plasma cholinesterase activity
M Özcan, Ö Öz, M Ercan
Pamukkale Medical Journal 18 (1), 99-104, 2025
2025
Rare Pericentrin (PCNT) gene mutation detected in a patient with microcephalic osteodysplastic primordial dwarfism in Turkey.
O Oz, A Gonel
2022
Are H1 and H3 haplotypes of endothelial protein C receptor (PROCR) an important factor in contracting COVID‐19?
MR Ceylan, N Kankılıç, Ö Öz
Journal of Medical Virology 94 (10), 4803-4808, 2022
2022
Are Monocyte,% M and WBC Biomarkers in the First Trimester Screening Test?
O Oz, A Gonel
New Emirates Medical Journal 3 (2), e061022209626, 2022
2022
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Artikelen 1–20