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Molecular Vision|April 10, 2007
Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalitiesAnouk Dansault, Gabriel David, Claire Schwartz, et al.Human Genetics|October 22, 2013
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic formJulie Salomon, Olivier Goulet, Danielle Canioni, et al.American Journal of Ophthalmology|December 3, 2014
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical featuresGaël Manes, Tremeur Guillaumie, Werner L Vos, et al.Pageof 5