Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease E Karaca, T Harel, D Pehlivan, SN Jhangiani, T Gambin, ZC Akdemir, ... Neuron 88 (3), 499-513, 2015 | 295 | 2015 |
The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation J Schreml, B Durmaz, O Cogulu, K Keupp, F Beleggia, E Pohl, E Milz, ... Human genetics 133, 29-39, 2014 | 82 | 2014 |
Prospective evaluation of whole genome microRNA expression profiling in childhood acute lymphoblastic leukemia M Duyu, B Durmaz, C Gunduz, C Vergin, D Yilmaz Karapinar, S Aksoylar, ... BioMed research international 2014, 2014 | 63 | 2014 |
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome E Pohl, A Aykut, F Beleggia, E Karaca, B Durmaz, K Keupp, E Arslan, ... Human genetics 132, 1311-1320, 2013 | 63 | 2013 |
Prenatally diagnosed Turner syndrome and cystic hygroma: incidence and reasons for referrals A Alpman, O Cogulu, M Akgul, E Ataman Arıkan, B Durmaz, E Karaca, ... Fetal diagnosis and therapy 25 (1), 58-61, 2009 | 55 | 2009 |
The genotoxic effect of radiofrequency waves on mouse brain E Karaca, B Durmaz, H Altug, T Yildiz, C Guducu, M Irgi, MGC Koksal, ... Journal of Neuro-Oncology 106, 53-58, 2012 | 51 | 2012 |
Interview with parents of children with Down syndrome: their perceptions and feelings A Durmaz, T Cankaya, B Durmaz, A Vahabi, C Gunduz, O Cogulu, ... The Indian Journal of Pediatrics 78, 698-702, 2011 | 42 | 2011 |
Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings B Durmaz, B Wollnik, O Cogulu, Y Li, H Tekgul, F Hazan, F Ozkinay Journal of neurology 256, 416-419, 2009 | 35 | 2009 |
Fetal gene therapy using a single injection of recombinant AAV9 rescued SMA phenotype in mice A Rashnonejad, GA Chermahini, C Gündüz, H Onay, A Aykut, B Durmaz, ... Molecular Therapy 27 (12), 2123-2133, 2019 | 33 | 2019 |
Congenital supratentorial cystic hemangioblastoma: Case report and review of the literature H Karabagli, P Karabagli, A Alpman, B Durmaz Journal of Neurosurgery: Pediatrics 107 (6), 515-518, 2007 | 33 | 2007 |
MicroRNA expression profile in the prenatal amniotic fluid samples of pregnant women with Down syndrome E Karaca, A Aykut, B Ertürk, B Durmaz, A Güler, B Büke, AÖ Yeniel, ... Balkan medical journal 35 (2), 163-166, 2018 | 28 | 2018 |
Genetic factors associated with the predisposition to late onset Alzheimer's disease A Durmaz, E Kumral, B Durmaz, H Onay, GI Aslan, F Ozkinay, S Pehlivan, ... Gene 707, 212-215, 2019 | 26 | 2019 |
Gonadotropin-dependent precocious puberty in a patient with X-linked adrenal hypoplasia congenita caused by a novel DAX-1 mutation S Darcan, D Goksen, S Ozen, F Ozkinay, B Durmaz, E Lalli Hormone research in paediatrics 75 (2), 153-156, 2011 | 26 | 2011 |
A severe α thalassemia case compound heterozygous for Hb Adana in α1 gene and 20.5 kb double gene deletion AA Durmaz, H Akin, AY Ekmekci, H Onay, B Durmaz, O Cogulu, ... Journal of Pediatric Hematology/Oncology 31 (8), 592-594, 2009 | 26 | 2009 |
The relationship between ACTN3 R577X gene polymorphism and physical performance in amateur soccer players and sedentary individuals FE Koku, SO Karamızrak, AS Çiftçi, H Taşlıdere, B Durmaz, Ö Çoğulu Biology of sport 36 (1), 9-16, 2019 | 23 | 2019 |
Long‐term evaluation of chromosomal breakages after radioisotope synovectomy for treatment of target joints in patients with haemophilia K Kavakli, O Cogulu, S Aydogdu, H Ozkilic, B Durmaz, O Kirbiyik, ... Haemophilia 16 (3), 474-478, 2010 | 22 | 2010 |
Talent selection and genetics in sport Y Ozveren, B Ozcaldıran, B Durmaz, O Oral Turkish Journal of Sport and Exercise 16 (2), 1-8, 2014 | 21 | 2014 |
The Association of minor congenital anomalies and childhood cancer A Durmaz, B Durmaz, B Kadioglu, S Aksoylar, D Karapinar, G Koturoglu, ... Pediatric blood & cancer 56 (7), 1098-1102, 2011 | 21 | 2011 |
Prenatal evaluation of MicroRNA expressions in pregnancies with down syndrome B Erturk, E Karaca, A Aykut, B Durmaz, A Guler, B Buke, AO Yeniel, ... BioMed research international 2016, 2016 | 20 | 2016 |
Interferon-γ gene and interferon-γ receptor-1 gene polymorphisms in children with tuberculosis from Turkey H Onay, A Ekmekci, B Durmaz, E Sayin, H Cosar, N Bayram, D Can, ... Scandinavian journal of infectious diseases 42 (1), 39-42, 2010 | 19 | 2010 |