| The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey A Ozantürk, JD Marshall, GB Collin, S Düzenli, RP Marshall, Ş Candan, ... Journal of human genetics 60 (1), 1-9, 2015 | 54 | 2015 |
| Impact of next‐generation sequencing panels in the evaluation of limb‐girdle muscular dystrophies B Özyilmaz, Ö Kirbiyik, TR Özdemir, Ö Kaya Özer, YB Kutbay, ... Annals of Human Genetics 83 (5), 331-347, 2019 | 36 | 2019 |
| Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY) TR Özdemir, Ö Kırbıyık, BN Dündar, A Abacı, ÖÖ Kaya, G Çatlı, ... Journal of Pediatric Endocrinology and Metabolism 31 (12), 1295-1304, 2018 | 27 | 2018 |
| Relationship between IL1β-511C> T and ILRN VNTR polymorphisms and keratoconus M Palamar, H Onay, TR Ozdemir, E Arslan, S Egrilmez, F Ozkinay, ... Cornea 33 (2), 145-147, 2014 | 26 | 2014 |
| Mannose-binding lectin codon 54 gene polymorphism in relation to risk of nosocomial invasive fungal infection in preterm neonates in the neonatal intensive care unit C Aydemir, H Onay, SS Oguz, TR Ozdemir, O Erdeve, F Ozkinay, ... The Journal of Maternal-Fetal & Neonatal Medicine 24 (9), 1124-1127, 2011 | 23 | 2011 |
| A novel homozygous selenocysteine insertion sequence binding protein 2 (SECISBP2, SBP2) gene mutation in a Turkish boy G Çatli, H Fujisawa, Ö Kirbiyik, MS Mimoto, P Gençpinar, TR Özdemir, ... Thyroid 28 (9), 1221-1223, 2018 | 20 | 2018 |
| 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 | 16 | 2020 |
| Targeted fetal cell‐free DNA screening for aneuploidies in 4,594 pregnancies: Single center study A Koc, O Ozer Kaya, B Ozyilmaz, YB Kutbay, O Kirbiyik, TR Ozdemir, ... Molecular Genetics & Genomic Medicine 7 (7), e00678, 2019 | 15 | 2019 |
| 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 | 14 | 2020 |
| A novel thyroid hormone receptor alpha gene mutation, clinic characteristics, and follow-up findings in a patient with thyroid hormone resistance O Korkmaz, S Ozen, TR Ozdemir, D Goksen, S Darcan Hormones 18, 223-227, 2019 | 14 | 2019 |
| Experiences in microarray‐based evaluation of developmental disabilities and congenital anomalies B Ozyilmaz, O Kirbiyik, A Koc, TR Ozdemir, OO Kaya, MS Guvenc, ... Clinical genetics 92 (4), 372-379, 2017 | 14 | 2017 |
| A novel mutation in two families with pycnodysostosis TR Ozdemir, T Atik, E Karaca, H Onay, F Ozkinay, O Cogulu Clinical dysmorphology 22 (3), 102-105, 2013 | 13 | 2013 |
| A case of spastic paraplegia-15 with a novel pathogenic variant in ZFYVE26 gene TR Özdemir, P Gençpınar, P Arıcan, Ö Öztekin, NO Dündar, B Özyılmaz International Journal of Neuroscience 129 (12), 1198-1202, 2019 | 12 | 2019 |
| Clinical findings in five Turkish patients with citrin deficiency and identification of a novel mutation on SLC25A13 MD Köse, M Kagnici, TR Özdemir, CB Erdur, G Erdemir, M Karakoyun, ... Journal of Pediatric Endocrinology and Metabolism 33 (1), 157-163, 2020 | 11 | 2020 |
| Prostat kanseri ve BPH (Benign prostat hiperplazisi) hastalarında idrarda tüm genom ekspresyon araştırması TR Özdemir Tıp Fakültesi, 2013 | 11 | 2013 |
| 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 | 10 | 2021 |
| Molecular genetic evaluation of NLRP 3, MVK and TNFRSF 1A associated periodic fever syndromes B Ozyilmaz, O Kirbiyik, A Koc, TR Ozdemir, O Kaya Ozer, YB Kutbay, ... International Journal of Immunogenetics 46 (4), 232-240, 2019 | 10 | 2019 |
| cfDNA in exhaled breath condensate (EBC) and contamination by ambient air: toward volatile biopsies A Koc, T Goksel, L Pelit, K Korba, TN Dizdas, E Baysal, UC Uzun, ... Journal of Breath Research 13 (3), 036006, 2019 | 9 | 2019 |
| Somatosensory reflex seizures in a child with epilepsy related to novel SCN1A mutation GP Arican P, Dundar NO, Cavusoglu D, Ozdemır TR Child's nervous system 33 (4), 677-680, 2017 | 9 | 2017 |
| 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 | 8 | 2021 |
