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Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.
Gedikbasi A, Toksoy G, Karaca M, Gulec C, Balci MC, Gunes D, Gunes S, Aslanger AD, Unverengil G, Karaman B, Basaran S, Demirkol M, Gokcay GF, Uyguner ZO. Gedikbasi A, et al. Among authors: toksoy g. Front Genet. 2023 Jun 12;14:1191159. doi: 10.3389/fgene.2023.1191159. eCollection 2023. Front Genet. 2023. PMID: 37377599 Free PMC article.
Second trimester choroid plexus cysts and trisomy 18.
Sahinoglu Z, Uludogan M, Sayar C, Turkover B, Toksoy G. Sahinoglu Z, et al. Among authors: toksoy g. Int J Gynaecol Obstet. 2004 Apr;85(1):24-9. doi: 10.1016/j.ijgo.2003.08.016. Int J Gynaecol Obstet. 2004. PMID: 15050463
Holt-Oram syndrome because of the novel TBX5 mutation c.481A>C.
Koçak Eker H, Altunoglu U, Toksoy G, Kayserili H. Koçak Eker H, et al. Among authors: toksoy g. Clin Dysmorphol. 2016 Oct;25(4):192-4. doi: 10.1097/MCD.0000000000000121. Clin Dysmorphol. 2016. PMID: 27552067 No abstract available.
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: toksoy g. 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
52 results