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Investigative Ophthalmology & Visual Science|November 30, 2000
RP1 protein truncating mutations predominate at the RP1 adRP locusA Payne, E Vithana, S Khaliq, et al.Investigative Ophthalmology & Visual Science|December 1, 2001
A novel keratocan mutation causing autosomal recessive cornea planaO J Lehmann, M F El-ashry, N D Ebenezer, et al.American Journal of Human Genetics|September 29, 2000
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucomaO J Lehmann, N D Ebenezer, T Jordan, et al.Genome Research|May 31, 2001
Genetic evidence on the origins of Indian caste populationsM Bamshad, T Kivisild, W S Watkins, et al.Journal of Medical Genetics|January 7, 2006
A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataractA Arora, P J Minogue, X Liu, et al.Nature Genetics|July 11, 2000
Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapyR R Ali, G M Sarra, C Stephens, et al.American Journal of Human Genetics|August 3, 2001
Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophyS E Wilkie, Y Li, E C Deery, et al.Molecular Genetics and Metabolism|June 30, 2000
Prevalence of AIPL1 mutations in inherited retinal degenerative diseaseM M Sohocki, I Perrault, B P Leroy, et al.Human Molecular Genetics|September 15, 1999
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosaS J Bowne, S P Daiger, M M Hims, et al.Molecular Cell|September 8, 2001
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)E N Vithana, L Abu-Safieh, M J Allen, et al.Pageof 37