Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial … NV Morgan, MR Morris, H Cangul, D Gleeson, A Straatman-Iwanowska, ... PLoS genetics 6 (2), e1000833, 2010 | 213 | 2010 |
SALL4 mutations in Okihiro syndrome (Duane‐radial ray syndrome), acro‐renal‐ocular syndrome, and related disorders J Kohlhase, D Chitayat, D Kotzot, S Ceylaner, UG Froster, S Fuchs, ... Human mutation 26 (3), 176-183, 2005 | 128 | 2005 |
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency S Ghosh, S Köstel Bal, ESJ Edwards, B Pillay, R Jiménez Heredia, ... Blood, The Journal of the American Society of Hematology 136 (23), 2638-2655, 2020 | 88 | 2020 |
Y chromosome azoospermia factor region microdeletions and recurrent pregnancy loss A Karaer, K Karaer, G Ozaksit, S Ceylaner, EF Percin American journal of obstetrics and gynecology 199 (6), 662. e1-662. e5, 2008 | 71 | 2008 |
Empty follicle syndrome in two sisters with three cycles: case report G Önalan, R Pabuçcu, R Önalan, S Ceylaner, B Selam Human Reproduction 18 (9), 1864-1867, 2003 | 60 | 2003 |
A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data. BS Sayli, AN Akarsu, U Sayli, O Akhan, S Ceylaner, M Sarfarazi Journal of medical genetics 32 (6), 421-434, 1995 | 57 | 1995 |
Vascular endothelial growth factor+ 405 C/G polymorphism is highly associated with an increased risk of endometriosis in Turkish women SO Altinkaya, M Ugur, G Ceylaner, M Ozat, T Gungor, S Ceylaner Archives of gynecology and obstetrics 283, 267-272, 2011 | 53 | 2011 |
Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing SY Ağladıoğlu, Z Aycan, S Çetinkaya, VN Baş, A Önder, ... Journal of Pediatric Endocrinology and Metabolism 29 (4), 487-496, 2016 | 51 | 2016 |
Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing A Anık, G Çatlı, A Abacı, E Sarı, E Yeşilkaya, HA Korkmaz, K Demir, ... Journal of Pediatric Endocrinology and Metabolism 28 (11-12), 1265-1271, 2015 | 50 | 2015 |
Excellent response to deep brain stimulation in a young girl with GNAO1-related progressive choreoathetosis S Yilmaz, T Turhan, S Ceylaner, S Gökben, H Tekgul, G Serdaroglu Child's Nervous System 32, 1567-1568, 2016 | 47 | 2016 |
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? M Romani, F Mancini, A Micalizzi, A Poretti, E Miccinilli, P Accorsi, E Avola, ... Human genetics 134, 123-126, 2015 | 39 | 2015 |
Extremely skewed X‐chromosome inactivation patterns in women with recurrent spontaneous abortion S Bagislar, I Ustuner, B Cengiz, F Soylemez, CB Akyerli, S Ceylaner, ... Australian and New Zealand journal of obstetrics and gynaecology 46 (5), 384-387, 2006 | 39 | 2006 |
Autosomal dominant inheritance of congenital dislocation of the hip in 16 members of a family G Ceylaner, S Ceylaner, F Üstünkan, M İnan Acta Orthopaedica et Traumatologica Turcica 42 (4), 289-291, 2008 | 37 | 2008 |
Amniyosentez ve Kordosentez ile Prenatal Tan›: 181 Olgunun De¤ erlendirilmesi MA Güven, S Ceylaner | 37 | 2005 |
Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene M Gündüz, F Ekici, E Özaydın, S Ceylaner, B Perez European journal of pediatrics 173, 1707-1710, 2014 | 36 | 2014 |
Histopathological analysis of the placental lesions in pregnancies complicated with IUGR and stillbirths in comparison with noncomplicated pregnancies İ Günyeli, E Erdemoğlu, S Ceylaner, S Zergeroğlu, T Mungan Journal of the Turkish German Gynecological Association 12 (2), 75, 2011 | 35 | 2011 |
Two frameshift mutations in MKRN3 in Turkish patients with familial central precocious puberty E Simsek, M Demiral, S Ceylaner, B Kırel Hormone research in paediatrics 87 (6), 405-411, 2017 | 34 | 2017 |
Genetic abnormalities in Turkish women with premature ovarian failure G Ceylaner, SO Altinkaya, L Mollamahmutoglu, S Ceylaner International Journal of Gynecology & Obstetrics 110 (2), 122-124, 2010 | 34 | 2010 |
Testotoxicosis: report of two cases, one with a novel mutation in LHCGR gene B Özcabı, FT Bucak, S Ceylaner, R Özcan, C Büyükünal, O Ercan, ... Journal of clinical research in pediatric endocrinology 7 (3), 242, 2015 | 33 | 2015 |
The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency ÇS Kasapkara, Z Aycan, E Açoğlu, S Senel, MM Oguz, S Ceylaner Journal of Pediatric Endocrinology and Metabolism 30 (4), 459-462, 2017 | 32 | 2017 |