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Experimental Eye Research|July 1, 1990
Analysis of the DNA of patients with retinitis pigmentosa with a cellular retinaldehyde binding protein cDNAP R Cotran, P J Ringens, J W Crabb, et al.Journal of Medical Genetics|June 7, 2005
Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophyJ Lin, K M Nishiguchi, M Nakamura, et al.Nature|December 12, 1991
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosaK Kajiwara, L B Hahn, S Mukai, et al.American Journal of Human Genetics|October 18, 2003
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosaDror Sharon, Michael A Sandberg, Vivian W Rabe, et al.Nature Genetics|December 1, 1995
Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesteraseS H Huang, S J Pittler, X Huang, et al.Genomics|January 1, 1995
Mapping of the human cone transducin alpha-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt diseaseI Magovcevic, S Weremowicz, C C Morton, et al.Archives of Ophthalmology (Chicago, Ill. : 1960)|July 31, 1998
Rod and cone function in the Nougaret form of stationary night blindnessM A Sandberg, B S Pawlyk, J Dan, et al.The Journal of Clinical Investigation|March 5, 2008
Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decayThomas Rio Frio, Nicholas M Wade, Adriana Ransijn, et al.Journal of Pediatric Orthopedics|July 21, 1999
Fibrous lesion of the distal femur associated with angular deformityL Berson, J P Dormans, D S Drummond, et al.Nature Genetics|July 3, 1999
Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosaE A Pierce, T Quinn, T Meehan, et al.Pageof 22