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Translational Vision Science & Technology
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July 24, 2018
Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps
Jacque L Duncan, Eric A Pierce, Amy M Laster, et al.
Investigative Ophthalmology & Visual Science
|
December 4, 2014
Targeted exon sequencing in Usher syndrome type I
Kinga M Bujakowska, Mark Consugar, Emily Place, et al.
Cold Spring Harbor Molecular Case Studies
|
February 5, 2020
Expanding the phenotypic spectrum in RDH12-associated retinal disease
Hilary A Scott, Emily M Place, Kevin Ferenchak, et al.
The American Journal of Pathology
|
August 5, 2014
A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration
Delu Song, Steve Grieco, Yafeng Li, et al.
Advances in Experimental Medicine and Biology
|
March 26, 2014
Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP)
Stephen P Daiger, Sara J Bowne, Lori S Sullivan, et al.
The American Journal of Pathology
|
May 22, 2016
Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease
Scott H Greenwald, Jeremy R Charette, Magdalena Staniszewska, et al.
Molecular Vision
|
May 2, 2003
Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene
Sara J Bowne, Stephen P Daiger, Kimberly A Malone, et al.
Ophthalmology
|
March 12, 2013
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2
Francesco Testa, Albert M Maguire, Settimio Rossi, et al.
Communications Biology
|
February 22, 2020
Investigating cone photoreceptor development using patient-derived NRL null retinal organoids
Alyssa Kallman, Elizabeth E Capowski, Jie Wang, et al.
American Journal of Human Genetics
|
February 25, 2014
Exome-based mapping and variant prioritization for inherited Mendelian disorders
Daniel C Koboldt, David E Larson, Lori S Sullivan, et al.
Page
of 14
Search research articles
Search
Showing results (81-90 of 132) with videos related to
Sort By:
Page
of 14
Translational Vision Science & Technology
|
July 24, 2018
Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps
Jacque L Duncan, Eric A Pierce, Amy M Laster, et al.
Investigative Ophthalmology & Visual Science
|
December 4, 2014
Targeted exon sequencing in Usher syndrome type I
Kinga M Bujakowska, Mark Consugar, Emily Place, et al.
Cold Spring Harbor Molecular Case Studies
|
February 5, 2020
Expanding the phenotypic spectrum in RDH12-associated retinal disease
Hilary A Scott, Emily M Place, Kevin Ferenchak, et al.
The American Journal of Pathology
|
August 5, 2014
A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration
Delu Song, Steve Grieco, Yafeng Li, et al.
Advances in Experimental Medicine and Biology
|
March 26, 2014
Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP)
Stephen P Daiger, Sara J Bowne, Lori S Sullivan, et al.
The American Journal of Pathology
|
May 22, 2016
Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease
Scott H Greenwald, Jeremy R Charette, Magdalena Staniszewska, et al.
Molecular Vision
|
May 2, 2003
Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene
Sara J Bowne, Stephen P Daiger, Kimberly A Malone, et al.
Ophthalmology
|
March 12, 2013
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2
Francesco Testa, Albert M Maguire, Settimio Rossi, et al.
Communications Biology
|
February 22, 2020
Investigating cone photoreceptor development using patient-derived NRL null retinal organoids
Alyssa Kallman, Elizabeth E Capowski, Jie Wang, et al.
American Journal of Human Genetics
|
February 25, 2014
Exome-based mapping and variant prioritization for inherited Mendelian disorders
Daniel C Koboldt, David E Larson, Lori S Sullivan, et al.
Page
of 14