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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.Nature Genetics|December 30, 1999
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosisM M Sohocki, S J Bowne, L S Sullivan, et al.Annals of Oncology : Official Journal of the European Society for Medical Oncology|March 7, 2018
MSR1 repeats modulate gene expression and affect risk of breast and prostate cancerA M Rose, A Krishan, C F Chakarova, et al.Human Molecular Genetics|July 27, 2001
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)A B McKie, J C McHale, T J Keen, et al.Cell|December 9, 1997
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptorC L Freund, C Y Gregory-Evans, T Furukawa, et al.Nature Genetics|October 3, 1999
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)A I den Hollander, J B ten Brink, Y J de Kok, et al.Pageof 18