| Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism M Ansari, G Poke, Q Ferry, K Williamson, R Aldridge, AM Meynert, ... Journal of medical genetics 51 (10), 659-668, 2014 | 187 | 2014 |
| Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome JC Czeschik, C Voigt, Y Alanay, B Albrecht, S Avci, D Fitzpatrick, ... Human genetics 132, 885-898, 2013 | 87 | 2013 |
| 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 | 32 | 2018 |
| 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 | 31 | 2018 |
| 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 | 20 | 2019 |
| Prenatal diagnosis and management of ectopia cordis: varied presentation spectrum G Türkyilmaz, S Avcı, T Sıvrıkoz, E Erturk, U Altunoglu, SE Turkyilmazlmaz, ... Fetal and pediatric pathology 38 (2), 127-137, 2019 | 17 | 2019 |
| Clinical exome sequencing in neuromuscular diseases: an experience from Turkey E Börklü-Yücel, Ç Demiriz, Ş Avcı, EN Vanlı-Yavuz, S Eraslan, P Oflazer, ... Neurological Sciences 41, 2157-2164, 2020 | 14 | 2020 |
| 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 | 13 | 2020 |
| Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome TA Uzunhan, B Ertürk, K Aydın, A Ayaz, U Altunoğlu, MH Yarar, ... Clinical Neurology and Neurosurgery 224, 107560, 2023 | 7 | 2023 |
| Mutations in AR or SRD5A2 genes: clinical findings, endocrine pitfalls, and genetic features of children with 46, XY DSD N Akcan, O Uyguner, F Baş, U Altunoğlu, G Toksoy, B Karaman, Ş Avcı, ... Journal of Clinical Research in Pediatric Endocrinology 14 (2), 153, 2022 | 4 | 2022 |
| Clinical and molecular genetic findings of cerebral arteriopathy with subcortical infarcts and leukoencephalopathy BS Rustemoglu, B Samanci, F Tepgec, M Kurtuncu, U Altunoglu, ... | 4 | 2021 |
| SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation M Nashabat, N Nabavizadeh, HP Saraçoğlu, B Sarıbaş, Ş Avcı, E Börklü, ... Nature Communications 15 (1), 1758, 2024 | 3 | 2024 |
| Functional loss of ubiquitin‐specific protease 14 may lead to a novel distal arthrogryposis phenotype GT Turgut, U Altunoglu, TS Sivrikoz, G Toksoy, T Kalaycı, Ş Avcı, ... Clinical genetics 101 (4), 421-428, 2022 | 3 | 2022 |
| Association between HBA locus copy number gains and pathogenic HBB gene variants G Toksoy, N Akay, A Aghayev, V Karaman, Ş Avcı, T Kalaycı, U Altunoğlu, ... International Journal of Medical Biochemistry 4 (2), 2021 | 3 | 2021 |
| Clinical classification of radial ray defects and research into etiopathogenesis Ş Avcı, G Toksoy, G Bağırova, U Altunoğlu, B Karaman, S Başaran, ... Journal of Istanbul Faculty of Medicine 81 (4), 127-138, 2018 | 3 | 2018 |
| PROKR2 mutations in patients with short stature who have isolated growth hormone deficiency and multiple pituitary hormone deficiency AD Kardelen, A Najaflı, F Baş, B Karaman, G Toksoy, Ş Poyrazoğlu, ... Journal of Clinical Research in Pediatric Endocrinology 15 (4), 338, 2023 | 2 | 2023 |
| Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey T Kalayci, U Altunoglu, A Çorbacioglu Esmer, Ş Avcı, T Sarac Sivrikoz, ... American Journal of Medical Genetics Part A 191 (2), 498-509, 2023 | 2 | 2023 |
| Evaluation of growth, puberty, osteoporosis, and the response to long‐term bisphosphonate therapy in four patients with osteoporosis‐pseudoglioma syndrome E Karakilic‐Ozturan, U Altunoglu, AP Ozturk, AD Kardelen Al, ... American Journal of Medical Genetics Part A 188 (7), 2061-2070, 2022 | 2 | 2022 |
| Revisiting TOP2B‐related phenotypes: Three new cases and literature review E Çepni, E Börklü, Ş Avcı, T Kalaycı, S Eraslan, H Kayserili Clinical Genetics 104 (2), 251-258, 2023 | 1 | 2023 |
| Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey E Yilmaz Gulec, GT Turgut, A Gezdirici, V Karaman, FN Ozturk, S Avci, ... Clinical genetics 102 (3), 201-217, 2022 | 1 | 2022 |
