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Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.
Simsek-Kiper PO, Taskiran EZ, Kosukcu C, Urel-Demir G, Akgun-Dogan O, Yilmaz G, Utine GE, Nishimura G, Boduroglu K, Alikasifoglu M. Simsek-Kiper PO, et al. Among authors: kosukcu c. Am J Med Genet A. 2018 Sep;176(9):2009-2016. doi: 10.1002/ajmg.a.40427. Epub 2018 Jul 31. Am J Med Genet A. 2018. PMID: 30063090
Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.
Taskiran EZ, Korkmaz E, Gucer S, Kosukcu C, Kaymaz F, Koyunlar C, Bryda EC, Chaki M, Lu D, Vadnagara K, Candan C, Topaloglu R, Schaefer F, Attanasio M, Bergmann C, Ozaltin F. Taskiran EZ, et al. Among authors: kosukcu c. J Am Soc Nephrol. 2014 Aug;25(8):1653-61. doi: 10.1681/ASN.2013060646. Epub 2014 Mar 7. J Am Soc Nephrol. 2014. PMID: 24610927 Free PMC article.
HERC1 mutations in idiopathic intellectual disability.
Utine GE, Taşkıran EZ, Koşukcu C, Karaosmanoğlu B, Güleray N, Doğan ÖA, Kiper PÖ, Boduroğlu K, Alikaşifoğlu M. Utine GE, et al. Among authors: kosukcu c. Eur J Med Genet. 2017 May;60(5):279-283. doi: 10.1016/j.ejmg.2017.03.007. Epub 2017 Mar 18. Eur J Med Genet. 2017. PMID: 28323226
Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome.
Taskiran EZ, Karaosmanoglu B, Koşukcu C, Doğan ÖA, Taylan-Şekeroğlu H, Şimşek-Kiper PÖ, Utine EG, Boduroğlu K, Alikaşifoğlu M. Taskiran EZ, et al. Among authors: kosukcu c. Am J Med Genet A. 2017 Dec;173(12):3143-3152. doi: 10.1002/ajmg.a.38495. Epub 2017 Oct 8. Am J Med Genet A. 2017. PMID: 28988429
Hypomorphic RAG1 defect in a child presented with pulmonary hemorrhage and digital necrosis.
Taşkıran EZ, Sönmez HE, Ayvaz DÇ, Koşukcu C, Batu ED, Esenboğa S, Topaloğlu R, Orhan D, Bilginer Y, Alikaşifoğlu M, Özen S, Tezcan İ. Taşkıran EZ, et al. Among authors: kosukcu c. Clin Immunol. 2018 Feb;187:92-94. doi: 10.1016/j.clim.2017.10.010. Epub 2017 Nov 7. Clin Immunol. 2018. PMID: 29107076 No abstract available.
Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus.
Batu ED, Koşukcu C, Taşkıran E, Sahin S, Akman S, Sözeri B, Ünsal E, Bilginer Y, Kasapcopur O, Alikaşifoğlu M, Ozen S. Batu ED, et al. Among authors: kosukcu c. J Rheumatol. 2018 Dec;45(12):1671-1679. doi: 10.3899/jrheum.171358. Epub 2018 Jul 15. J Rheumatol. 2018. PMID: 30008451
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