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Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.
Taylor RL, Handley MT, Waller S, Campbell C, Urquhart J, Meynert AM, Ellingford JM, Donnelly D, Wilcox G, Lloyd IC, Mundy H, FitzPatrick DR, Deshpande C, Clayton-Smith J, Black GC. Taylor RL, et al. Among authors: urquhart j. Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):594-603. doi: 10.1167/iovs.16-21026. Invest Ophthalmol Vis Sci. 2017. PMID: 28129423 Free PMC article.
Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract.
Gillespie RL, Urquhart J, Anderson B, Williams S, Waller S, Ashworth J, Biswas S, Jones S, Stewart F, Lloyd IC, Clayton-Smith J, Black GC. Gillespie RL, et al. Among authors: urquhart j. Ophthalmology. 2016 Jan;123(1):217-20. doi: 10.1016/j.ophtha.2015.06.035. Epub 2015 Jul 30. Ophthalmology. 2016. PMID: 26233629 Review. No abstract available.
297 results