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Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Oğur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M. Sukalo M, et al. Among authors: kirbiyik o. Hum Mutat. 2014 May;35(5):521-31. doi: 10.1002/humu.22538. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24599544 Review.
Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum.
Çakmaklı S, Çankaya T, Gürsoy S, Koç A, Kırbıyık Ö, Kılıçarslan ÖA, Özer E, Erçal D, Bozkaya ÖG. Çakmaklı S, et al. Among authors: kirbiyik o. Cytogenet Genome Res. 2017;153(4):175-180. doi: 10.1159/000486775. Epub 2018 Mar 9. Cytogenet Genome Res. 2017. PMID: 29518772 Review.
Seckel syndrome with Morgagni hernia.
Onder A, Cogulu O, Ekmekci A, Pariltay E, Kirbiyik O, Ozkinay F. Onder A, et al. Among authors: kirbiyik o. Clin Dysmorphol. 2007 Jul;16(3):209-210. doi: 10.1097/MCD.0b013e3281c9b08e. Clin Dysmorphol. 2007. PMID: 17551341
Evaluation of chromosomal abnormalities and Y-chromosome microdeletions in 1696 Turkish cases with primary male infertility: A single-center study.
Özdemir TR, Özyılmaz B, Çakmak Ö, Kaya ÖÖ, Köse C, Kırbıyık Ö, Keskin MZ, Koç A, Zeyrek T, Kutbay YB, Erdoğan KM, Güvenç MS. Özdemir TR, et al. Among authors: kirbiyik o. Turk J Urol. 2019 Nov 29;46(2):95-100. doi: 10.5152/tud.2019.19156. Print 2020 Mar. Turk J Urol. 2019. PMID: 32125967 Free PMC article.
Fetal HLA-G alleles and their effect on miscarriage.
Koc A, Kirbiyik O, Kutbay YB, Ozyilmaz B, Ozdemir TR, Kaya OO, Kubat G, Koc ZP. Koc A, et al. Among authors: kirbiyik o. Adv Clin Exp Med. 2018 Sep;27(9):1233-1237. doi: 10.17219/acem/69692. Adv Clin Exp Med. 2018. PMID: 29809322 Free article.
39 results