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Age-severity relationships in families linked to FCD2 with retroillumination photography.
McGlumphy EJ, Yeo WS, Riazuddin SA, Al-Saif A, Wang J, Eghrari AO, Meadows DN, Emmert DG, Katsanis N, Gottsch JD. McGlumphy EJ, et al. Among authors: riazuddin sa. Invest Ophthalmol Vis Sci. 2010 Dec;51(12):6298-302. doi: 10.1167/iovs.10-5187. Epub 2010 Sep 1. Invest Ophthalmol Vis Sci. 2010. PMID: 20811064 Free PMC article.
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.
Riazuddin SA, Iqbal M, Wang Y, Masuda T, Chen Y, Bowne S, Sullivan LS, Waseem NH, Bhattacharya S, Daiger SP, Zhang K, Khan SN, Riazuddin S, Hejtmancik JF, Sieving PA, Zack DJ, Katsanis N. Riazuddin SA, et al. Among authors: riazuddin s. Am J Hum Genet. 2010 May 14;86(5):805-12. doi: 10.1016/j.ajhg.2010.04.001. Epub 2010 May 6. Am J Hum Genet. 2010. PMID: 20451172 Free PMC article.
262 results