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Ophthalmic Genetics|July 2, 2010
PITPNM3 is an uncommon cause of cone and cone-rod dystrophiesLinda Köhn, Susanne Kohl, Sara J Bowne, et al.Molecular Vision|October 26, 2007
Characterization of retinal inosine monophosphate dehydrogenase 1 in several mammalian speciesCatherine J Spellicy, Stephen P Daiger, Lori S Sullivan, et al.Current Eye Research|October 17, 2003
Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25Lori S Sullivan, Xinping Zhao, Sara J Bowne, et al.Advances in Experimental Medicine and Biology|December 30, 2019
Detection of Large Structural Variants Causing Inherited Retinal DiseasesStephen P Daiger, Lori S Sullivan, Sara J Bowne, et al.Molecular Vision|August 2, 2017
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended familiesKaylie D Jones, Dianna K Wheaton, Sara J Bowne, et al.The Journal of Biological Chemistry|November 1, 2008
IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNASarah E Mortimer, Dong Xu, Dharia McGrew, et al.Advances in Experimental Medicine and Biology|March 19, 2010
Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosaStephen P Daiger, Lori S Sullivan, Sara J Bowne, et al.Molecular Vision|November 6, 2007
The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosaAnisa I Gire, Lori S Sullivan, Sara J Bowne, et al.Molecular Vision|May 30, 2008
Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosaSara J Bowne, Lori S Sullivan, Anisa I Gire, et al.European Journal of Human Genetics : EJHG|December 4, 2008
Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetranceLinda Köhn, Sara J Bowne, Lori S Sullivan, et al.Pageof 8