| Cleidocranial dysplasia: clinical, endocrinologic and molecular findings in 15 patients from 11 families FD Bir, N Dinçkan, Y Güven, F Baş, U Altunoğlu, SS Kuvvetli, ... European journal of medical genetics 60 (3), 163-168, 2017 | 44 | 2017 |
| Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study F Baş, ZO Uyguner, F Darendeliler, Z Aycan, E Cetinkaya, M Berberoğlu, ... Endocrine 49, 479-491, 2015 | 44 | 2015 |
| Prenatal ultrasonographical features of limb body wall complex: a review of etiopathogenesis and a new classification Z Sahinoglu, M Uludogan, H Arik, A Aydin, M Kucukbas, R Bilgic, ... Fetal and Pediatric Pathology 26 (3), 135-151, 2007 | 42 | 2007 |
| Second trimester choroid plexus cysts and trisomy 18 Z Sahinoglu, M Uludogan, C Sayar, B Turkover, G Toksoy International Journal of Gynecology & Obstetrics 85 (1), 24-29, 2004 | 37 | 2004 |
| Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome A Uzumcu, B Karaman, G Toksoy, ZO Uyguner, S Candan, H Eris, B Tatli, ... European journal of medical genetics 52 (5), 315-320, 2009 | 35 | 2009 |
| Prevalence of X-aneuploidies, X-structural abnormalities and 46, XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency BB Geckinli, G Toksoy, C Sayar, MA Soylemez, G Yesil, H Aydın, ... European Journal of Obstetrics & Gynecology and Reproductive Biology 182 …, 2014 | 31 | 2014 |
| Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene F Baş, G Toksoy, B Ergun-Longmire, ZO Uyguner, ZY Abalı, Ş Poyrazoğlu, ... The Journal of steroid biochemistry and molecular biology 181, 88-97, 2018 | 30 | 2018 |
| A rare cause of congenital adrenal hyperplasia: clinical and genetic findings and follow-up characteristics of six patients with 17-hydroxylase deficiency including two novel … AD Kardelen, G Toksoy, F Baş, ZY Abalı, G Gençay, Ş Poyrazoğlu, ... Journal of Clinical Research in Pediatric Endocrinology 10 (3), 206, 2018 | 27 | 2018 |
| Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases B Karaman, H Kayserili, A Ghanbari, ZO Uyguner, G Toksoy, U Altunoglu, ... Molecular cytogenetics 11, 1-7, 2018 | 24 | 2018 |
| Biosorption of chromium(VI), nickel(II) and Remazol Blue by Rhodotorula muciloginosa biomass NO San, G Dönmez Water Science and Technology 65 (3), 471-477, 2012 | 21 | 2012 |
| Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling G Toksoy, H Durmus, A Aghayev, G Bagirova, BS Rustemoglu, S Basaran, ... Neuromuscular Disorders 29 (8), 601-613, 2019 | 19 | 2019 |
| Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation A Kariminejad, B Bozorgmehr, H Alizadeh, S Ghaderi‐Sohi, G Toksoy, ... American journal of medical genetics Part A 164 (5), 1322-1327, 2014 | 19 | 2014 |
| Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype ZY Yildirim, G Toksoy, O Uyguner, A Nayir, S Yavuz, U Altunoglu, ... European Journal of Medical Genetics 63 (1), 103621, 2020 | 18 | 2020 |
| A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations ZO Uyguner, G Toksoy, U Altunoglu, H Ozgur, S Basaran, H Kayserili European Journal of Medical Genetics 58 (6-7), 358-363, 2015 | 17 | 2015 |
| Idiopathic angioedema with F12 mutation: is it a new entity? A Gelincik, S Demir, M Olgaç, V Karaman, G Toksoy, B Çolakoğlu, ... Annals of Allergy, Asthma & Immunology 114 (2), 154-156, 2015 | 17 | 2015 |
| Precocious or early puberty in patients with combined pituitary hormone deficiency due to POU1F1 gene mutation: case report and review of possible mechanisms F Baş, ZY Abalı, G Toksoy, Ş Poyrazoğlu, R Bundak, Ç Güleç, ... Hormones 17, 581-588, 2018 | 16 | 2018 |
| The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey B Karaman, M Aytan, K Yilmaz, G Toksoy, EP Onal, A Ghanbari, A Engur, ... European journal of medical genetics 49 (3), 207-214, 2006 | 16 | 2006 |
| The results of cytogenetic analysis with regard to intracytoplasmic sperm injection in males, females and fetuses S Basaran, A Engur, M Aytan, B Karaman, A Ghanbari, G Toksoy, ... Fetal diagnosis and therapy 19 (4), 313-318, 2004 | 16 | 2004 |
| Utilization of neurosonography for evaluation of the corpus callosum malformations in the era of fetal magnetic resonance imaging G Turkyilmaz, T Sarac Sivrikoz, E Erturk, N Ozcan, B Tatlı, B Karaman, ... Journal of Obstetrics and Gynaecology Research 45 (8), 1472-1478, 2019 | 15 | 2019 |
| Clinical and molecular characterization of Fanconi anemia patients in turkey G Toksoy, D Uludağ Alkaya, G Bagirova, Ş Avcı, A Aghayev, N Günes, ... Molecular syndromology 11 (4), 183-196, 2020 | 11 | 2020 |
