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Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family.
Karolak JA, Rydzanicz M, Ginter-Matuszewska B, Pitarque JA, Molinari A, Bejjani BA, Gajecka M. Karolak JA, et al. Among authors: bejjani ba. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):7687-90. doi: 10.1167/iovs.15-17538. Invest Ophthalmol Vis Sci. 2015. PMID: 26641546
Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.
Gajecka M, Radhakrishna U, Winters D, Nath SK, Rydzanicz M, Ratnamala U, Ewing K, Molinari A, Pitarque JA, Lee K, Leal SM, Bejjani BA. Gajecka M, et al. Among authors: bejjani ba. Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1531-9. doi: 10.1167/iovs.08-2173. Epub 2008 Nov 14. Invest Ophthalmol Vis Sci. 2009. PMID: 19011015 Free PMC article.
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
Rosenfeld JA, Drautz JM, Clericuzio CL, Cushing T, Raskin S, Martin J, Tervo RC, Pitarque JA, Nowak DM, Karolak JA, Lamb AN, Schultz RA, Ballif BC, Bejjani BA, Gajecka M, Shaffer LG. Rosenfeld JA, et al. Among authors: bejjani ba. Am J Med Genet A. 2011 Aug;155A(8):1906-16. doi: 10.1002/ajmg.a.34100. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744490
[An analysis of the fundus changes in families with high myopia].
Frajdenberg A, Pecold K, Podfigurna-Musielak M, Rydzanicz M, Mrugacz M, Leal SM, Bejjani BA, Gajecka M. Frajdenberg A, et al. Among authors: bejjani ba. Klin Oczna. 2007;109(4-6):173-5. Klin Oczna. 2007. PMID: 17725279 Free PMC article. Polish.
94 results