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Burak Durmaz
Burak Durmaz
MD., PhD. of Medical Genetics, Ege University
Verified email at ege.edu.tr
Title
Cited by
Cited by
Year
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
2952015
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
822014
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
632014
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
632013
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
552009
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
512012
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
422011
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
352009
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
332019
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
332007
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
282018
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
262019
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
262011
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
262009
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
232019
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
222010
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
212014
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
212011
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
202016
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
192010
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