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Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.
Taşkıran EZ, Karaosmanoğlu B, Koşukcu C, Ürel-Demir G, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Alikaşifoğlu M, Boduroğlu K, Utine GE. Taşkıran EZ, et al. Among authors: alikasifoglu m. J Intellect Disabil Res. 2021 Jun;65(6):577-588. doi: 10.1111/jir.12835. Epub 2021 Mar 19. J Intellect Disabil Res. 2021. PMID: 33739554
Etiological yield of SNP microarrays in idiopathic intellectual disability.
Utine GE, Haliloğlu G, Volkan-Salancı B, Çetinkaya A, Kiper PÖ, Alanay Y, Aktaş D, Anlar B, Topçu M, Boduroğlu K, Alikaşifoğlu M. Utine GE, et al. Among authors: alikasifoglu m. Eur J Paediatr Neurol. 2014 May;18(3):327-37. doi: 10.1016/j.ejpn.2014.01.004. Epub 2014 Jan 25. Eur J Paediatr Neurol. 2014. PMID: 24508361
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: alikasifoglu m. 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
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: alikasifoglu m. 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
157 results