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Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Du R, Dinckan N, Song X, Coban-Akdemir Z, Jhangiani SN, Guven Y, Aktoren O, Kayserili H, Petty LE, Muzny DM, Below JE, Boerwinkle E, Wu N, Gibbs RA, Posey JE, Lupski JR, Letra A, Uyguner ZO. Du R, et al. Among authors: uyguner zo. Hum Genet. 2018 Sep;137(9):689-703. doi: 10.1007/s00439-018-1907-y. Epub 2018 Jul 26. Hum Genet. 2018. PMID: 30046887 Free PMC article.
Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome.
Uzumcu A, Karaman B, Toksoy G, Uyguner ZO, Candan S, Eris H, Tatli B, Geckinli B, Yuksel A, Kayserili H, Basaran S. Uzumcu A, et al. Among authors: uyguner zo. Eur J Med Genet. 2009 Sep-Oct;52(5):315-20. doi: 10.1016/j.ejmg.2009.05.003. Epub 2009 May 19. Eur J Med Genet. 2009. PMID: 19460469
74 results