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A multidisciplinary clinical approach to facioscapulohumeral muscular dystrophy.
Cakmak ÖÖ , Eren I , Aslanger A , Günerbüyük C , Kayserili H , Oflazer P , Sar C , Demirhan M , Özdemir YG . Cakmak ÖÖ , et al. Among authors: kayserili h. Ideggyogy Sz. 2018 Sep 30;71(9-10):337-342. doi: 10.18071/isz.71.0337. Ideggyogy Sz. 2018. PMID: 30335266 Free article. English.
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
Vandervore LV, Schot R, Milanese C, Smits DJ, Kasteleijn E, Fry AE, Pilz DT, Brock S, Börklü-Yücel E, Post M, Bahi-Buisson N, Sánchez-Soler MJ, van Slegtenhorst M, Keren B, Afenjar A, Coury SA, Tan WH, Oegema R, de Vries LS, Fawcett KA, Nikkels PGJ, Bertoli-Avella A, Al Hashem A, Alwabel AA, Tlili-Graiess K, Efthymiou S, Zafar F, Rana N, Bibi F, Houlden H, Maroofian R, Person RE, Crunk A, Savatt JM, Turner L, Doosti M, Karimiani EG, Saadi NW, Akhondian J, Lequin MH, Kayserili H, van der Spek PJ, Jansen AC, Kros JM, Verdijk RM, Milošević NJ, Fornerod M, Mastroberardino PG, Mancini GMS. Vandervore LV, et al. Among authors: kayserili h. Am J Hum Genet. 2019 Dec 5;105(6):1126-1147. doi: 10.1016/j.ajhg.2019.10.009. Epub 2019 Nov 14. Am J Hum Genet. 2019. PMID: 31735293 Free PMC article.
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: kayserili h. 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: kayserili h. 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
272 results