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Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.
Bayram Y, Pehlivan D, Karaca E, Gambin T, Jhangiani SN, Erdin S, Gonzaga-Jauregui C, Wiszniewski W, Muzny D; Baylor-Hopkins Center for Mendelian Genomics; Elcioglu NH, Yildirim MS, Bozkurt B, Zamani AG, Boerwinkle E, Gibbs RA, Lupski JR. Bayram Y, et al. Among authors: bozkurt b. Am J Med Genet A. 2014 Sep;164A(9):2328-34. doi: 10.1002/ajmg.a.36678. Epub 2014 Jul 14. Am J Med Genet A. 2014. PMID: 25045128 Free PMC article.
K-ras oncogene mutation in pterygium.
Ozturk BT, Yıldırım MS, Zamani A, Bozkurt B. Ozturk BT, et al. Among authors: bozkurt b. Eye (Lond). 2017 Mar;31(3):491-498. doi: 10.1038/eye.2016.254. Epub 2016 Nov 11. Eye (Lond). 2017. PMID: 27834959 Free PMC article. Clinical Trial.
Ocular Findings in Children With 22q11.2 Deletion Syndrome.
Gokturk B, Topcu-Yilmaz P, Bozkurt B, Yildirim MS, Guner SN, Sayar EH, Reisli I. Gokturk B, et al. Among authors: bozkurt b. J Pediatr Ophthalmol Strabismus. 2016 Jul 1;53(4):218-22. doi: 10.3928/01913913-20160427-01. Epub 2016 May 17. J Pediatr Ophthalmol Strabismus. 2016. PMID: 27182748
651 results