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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: uyguner zo. Front Genet. 2023 Jun 12;14:1191159. doi: 10.3389/fgene.2023.1191159. eCollection 2023. Front Genet. 2023. PMID: 37377599 Free PMC article.
A Turkish family with a novel mutation in the promoter region of the C1 inhibitor gene.
Büyüköztürk S, Eroğlu BK, Gelincik A, Uzümcü A, Ozşeker F, Colakoğlu B, Dal M, Uyguner ZO. Büyüköztürk S, et al. Among authors: uyguner zo. J Allergy Clin Immunol. 2009 Apr;123(4):962-4. doi: 10.1016/j.jaci.2008.12.022. Epub 2009 Feb 6. J Allergy Clin Immunol. 2009. PMID: 19201015 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: 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
Idiopathic angioedema with F12 mutation: is it a new entity?
Gelincik A, Demir S, Olgaç M, Karaman V, Toksoy G, Çolakoğlu B, Büyüköztürk S, Uyguner ZO. Gelincik A, et al. Among authors: uyguner zo. Ann Allergy Asthma Immunol. 2015 Feb;114(2):154-6. doi: 10.1016/j.anai.2014.11.018. Epub 2014 Dec 15. Ann Allergy Asthma Immunol. 2015. PMID: 25524745 No abstract available.
73 results