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Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling.
Toksoy G, Durmus H, Aghayev A, Bagirova G, Sevinc Rustemoglu B, Basaran S, Avci S, Karaman B, Parman Y, Altunoglu U, Yapici Z, Tekturk P, Deymeer F, Topaloglu H, Kayserili H, Oflazer-Serdaroglu P, Uyguner ZO. Toksoy G, et al. Among authors: avci s. Neuromuscul Disord. 2019 Aug;29(8):601-613. doi: 10.1016/j.nmd.2019.03.012. Epub 2019 Mar 28. Neuromuscul Disord. 2019. PMID: 31443951
Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey.
Toksoy G, Uludağ Alkaya D, Bagirova G, Avcı Ş, Aghayev A, Günes N, Altunoğlu U, Alanay Y, Başaran S, Berkay EG, Karaman B, Celkan TT, Apak H, Kayserili H, Tüysüz B, Uyguner ZO. Toksoy G, et al. Among authors: avci s. Mol Syndromol. 2020 Nov;11(4):183-196. doi: 10.1159/000509838. Epub 2020 Sep 23. Mol Syndromol. 2020. PMID: 33224012 Free PMC article.
Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome.
Karakilic-Ozturan E, Altunoglu U, Ozturk AP, Kardelen Al AD, Yavas Abali Z, Avci S, Wollnik B, Poyrazoglu S, Bas F, Uyguner ZO, Kayserili H, Darendeliler F. Karakilic-Ozturan E, et al. Among authors: avci s. Am J Med Genet A. 2022 Jul;188(7):2061-2070. doi: 10.1002/ajmg.a.62742. Epub 2022 Apr 8. Am J Med Genet A. 2022. PMID: 35393770
Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey.
Kalayci T, Altunoglu U, Çorbacioglu Esmer A, Avcı Ş, Sarac Sivrikoz T, Karaman B, Kalelioğlu İ, Has R, Uyguner ZO, Yüksel A, Başaran S, Kayserili H. Kalayci T, et al. Among authors: avci s. Am J Med Genet A. 2023 Feb;191(2):498-509. doi: 10.1002/ajmg.a.63050. Epub 2022 Nov 17. Am J Med Genet A. 2023. PMID: 36398383
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
Aksu Uzunhan T, Ertürk B, Aydın K, Ayaz A, Altunoğlu U, Yarar MH, Gezdirici A, İçağasıoğlu DF, Gökpınar İli E, Uyanık B, Eser M, Kutbay YB, Topçu Y, Kılıç B, Bektaş G, Arduç Akçay A, Ekici B, Chousein A, Avcı Ş, Yüksel A, Kayserili H. Aksu Uzunhan T, et al. Among authors: avci s. Clin Neurol Neurosurg. 2023 Jan;224:107560. doi: 10.1016/j.clineuro.2022.107560. Epub 2022 Dec 13. Clin Neurol Neurosurg. 2023. PMID: 36580738
165 results