Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Samuel G Jacobson

Showing results (181-190 of 224) with videos related to

Pageof 23
Sort By:
Investigative Ophthalmology & Visual Science|July 7, 2009
CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathyTomas S Aleman, Nagasamy Soumittra, Artur V Cideciyan, et al.
American Journal of Human Genetics|December 23, 2006
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degenerationJames S Friedman, Bo Chang, Chitra Kannabiran, et al.
Human Molecular Genetics|August 7, 2013
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt diseaseTerry A Braun, Robert F Mullins, Alex H Wagner, et al.
Investigative Ophthalmology & Visual Science|August 25, 2011
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosaManir Ali, Paul M Hocking, Martin McKibbin, et al.
Iscience|May 17, 2021
Safety and improved efficacy signals following gene therapy in childhood blindness caused by <i>GUCY2D</i> mutationsSamuel G Jacobson, Artur V Cideciyan, Allen C Ho, et al.
Iscience|October 24, 2022
Night vision restored in days after decades of congenital blindnessSamuel G Jacobson, Artur V Cideciyan, Allen C Ho, et al.
Investigative Ophthalmology & Visual Science|July 16, 2011
Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse modelTomas S Aleman, Artur V Cideciyan, Geoffrey K Aguirre, et al.
Human Mutation|May 7, 2019
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 geneJulia Felden, Britta Baumann, Manir Ali, et al.
American Journal of Human Genetics|February 18, 2004
Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage diseaseGonçalo R Abecasis, Beverly M Yashar, Yu Zhao, et al.
Human Molecular Genetics|April 4, 2017
REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survivalShobi Veleri, Jacob Nellissery, Bibhudatta Mishra, et al.
Pageof 23

Showing results (181-190 of 224) with videos related to

Sort By:
Pageof 23
Investigative Ophthalmology & Visual Science|July 7, 2009
CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathyTomas S Aleman, Nagasamy Soumittra, Artur V Cideciyan, et al.
American Journal of Human Genetics|December 23, 2006
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degenerationJames S Friedman, Bo Chang, Chitra Kannabiran, et al.
Human Molecular Genetics|August 7, 2013
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt diseaseTerry A Braun, Robert F Mullins, Alex H Wagner, et al.
Investigative Ophthalmology & Visual Science|August 25, 2011
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosaManir Ali, Paul M Hocking, Martin McKibbin, et al.
Iscience|May 17, 2021
Safety and improved efficacy signals following gene therapy in childhood blindness caused by <i>GUCY2D</i> mutationsSamuel G Jacobson, Artur V Cideciyan, Allen C Ho, et al.
Iscience|October 24, 2022
Night vision restored in days after decades of congenital blindnessSamuel G Jacobson, Artur V Cideciyan, Allen C Ho, et al.
Investigative Ophthalmology & Visual Science|July 16, 2011
Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse modelTomas S Aleman, Artur V Cideciyan, Geoffrey K Aguirre, et al.
Human Mutation|May 7, 2019
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 geneJulia Felden, Britta Baumann, Manir Ali, et al.
American Journal of Human Genetics|February 18, 2004
Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage diseaseGonçalo R Abecasis, Beverly M Yashar, Yu Zhao, et al.
Human Molecular Genetics|April 4, 2017
REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survivalShobi Veleri, Jacob Nellissery, Bibhudatta Mishra, et al.
Pageof 23