| EP18. 39: Novel pathogenic variant in thyroid hormone receptor interactor 11 gene associated with skeletal dysplasia I Toka, H Golbasi, T Ozdemir, Z Cakir, I Gercik, I Ucar, ST Can, R Torun, ... Ultrasound in Obstetrics & Gynecology 64, 292-293, 2024 | | 2024 |
| JAKCalc: A machine-learning approach to rationalized JAK2 testing in patients with elevated hemoglobin levels FD Koseoglu, FK Karadag, H Bulbul, EU Alici, B Ozyilmaz, TR Ozdemir Medicine 103 (14), e37751, 2024 | | 2024 |
| Association between fetal fraction of cell-free DNA and adverse pregnancy outcomes H Golbasi, B Bayraktar, C Golbasi, I Omeroglu, D Adiyaman, KO Alkan, ... Archives of Gynecology and Obstetrics, 1-12, 2024 | | 2024 |
| Prognostic and predictive role of liquid biopsy in lung cancer patients T Goksel, S Özgür, AT Vardarlı, A Koç, HS Karakuş, TR Özdemir, ... Frontiers in Oncology 13, 1275525, 2024 | 2 | 2024 |
| The Case Report of Hemoglobin Hamadan: HBB: c. 169G> C (B 56 (D7) Gly-Arg) in İstanbul Ö HÜRMEYDAN, Ö ÇAKIR, F ERDOĞMUŞ, B ÖZYILMAZ, TR ÖZDEMİR, ... Turkiye Klinikleri Journal of Case Reports 31 (1), 58-62, 2023 | | 2023 |
| Gilbert Syndrome and Genetic Findings in Children: A Tertiary-Center Experience from Turkey YÇ Appak, B Aksoy, B Özyılmaz, TR Özdemir, M Baran Turkish Archives of Pediatrics 57 (3), 295-299, 2022 | | 2022 |
| Experiences in the molecular genetic and histopathological evaluation of calpainopathies B Ozyilmaz, O Kirbiyik, TR Ozdemir, OK Ozer, YB Kutbay, KM Erdogan, ... Neurogenetics 23 (2), 103-114, 2022 | 7 | 2022 |
| A rare homozygous microdeletion syndrome: hypotonia-cystinuria syndrome K Metli, A Zamani, T Özdemir, MS Yıldırım Molecular Genetics and Metabolism 132, S120, 2021 | | 2021 |
| The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum M Kose, E Isik, A Aykut, A Durmaz, E Kose, M Ersoy, G Diniz, O Adebali, ... Journal of Pediatric Endocrinology and Metabolism 34 (4), 417-430, 2021 | 11 | 2021 |
| Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey M Kose, E Kose, A Ünalp, Ü Yılmaz, S Edizer, HG Tekin, P Karaoğlu, ... Neurological Sciences 42 (3), 1103–1111, 2021 | 10 | 2021 |
| The relation between distant metastasis and genetic change type in stage IV lung adenocarcinoma patients at diagnosis S Ermin, Ö Batum, M Saka Güvenç, G Diniz, A Ayrancı, KM Erdoğan, ... The Clinical Respiratory Journal 15 (2), 196-202, 2021 | 1 | 2021 |
| Homozygous hypomorphic SOX9 mutation in two 46, XY sisters without skeletal malformations S Ledig, A Tewes, T Oezdemir, A Bohring, P Wieacker EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 805-806, 2020 | | 2020 |
| Congenital Disorder of Glycosylation: Clinical and Molecular Characteristics of 9 Patients from Turkey M Kose, E Kose, M Kagnici, HG Tekin, B Özen, TR Özdemir, Ö Kırbıyık, ... Journal of Dr Behcet Uz Children's Hospital 10 (3), 267-273, 2020 | 2 | 2020 |
| SURF1 related Leigh syndrome: clinical and molecular findings of 16 patients from Turkey M Kose, E Canda, M Kagnici, A Aykut, O Adebali, A Durmaz, A Bircan, ... Molecular Genetics and Metabolism Reports 25, 100657, 2020 | 17 | 2020 |
| Evaluation of Laboratory Findings, Clinical Features and Rates of Diagnosis of Patients Admitted to Outpatient Clinic of Pediatric Neurology with Neuromuscular Manifestations TA Uzunhan, B Ertürk, PÖ Çubuk, B Uyanık, A Ayaz, O Akan, TR Özdemir Journal of Dr Behcet Uz Children's Hospital 10 (2), 127-135, 2020 | | 2020 |
| Topiramate-Responsive Tremor in a Novel Pathogenic Variant of SPG15 Patient. A Ersen, P Gençpınar, P Arıcan, N Aliyeva, TR Özdemir, Ö Öztekin Clinical Neuropharmacology 43 (4), 121-122, 2020 | 2 | 2020 |
| The Frequency and Management of TP53 Mutation Carriers in Turkish Patients with BRCA-Negative Breast Cancer Under 50 Years of Age TR ÖZDEMİR, Ö ÖZER KAYA, M EMİROĞLU, KM ERDOĞAN, ... Turkish Journal of Oncology 35 (2), 178-188, 2020 | | 2020 |
| A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation G Arslan, S Acar, TR Özdemir, Ö Nalbantoğlu, Ö Kırbıyık, Ö Köprülü, ... The Journal of Pediatric Research 7 (2), 168-171, 2020 | | 2020 |
| Can fetal fractions in the cell-free DNA test predict the onset of fetal growth restriction? D Adiyaman, BK Atakul, M Kuyucu, G Toklu, H Golbasi, A Koc, OO Kaya, ... Journal of Perinatal Medicine 48 (4), 395-401, 2020 | 8 | 2020 |
| Evaluation of chromosomal abnormalities and Y-chromosome microdeletions in 1696 Turkish cases with primary male infertility: A single-center study TR Özdemir, B Özyılmaz, Ö Çakmak, ÖÖ Kaya, C Köse, Ö Kırbıyık, ... Turkish journal of urology 46 (2), 95, 2020 | 18 | 2020 |
