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

Ditta Zobor

Showing results (41-50 of 54) with videos related to

Pageof 6
Sort By:
Molecular Genetics & Genomic Medicine|January 29, 2015
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophyGaluh D N Astuti, Vincent Sun, Miriam Bauwens, et al.
Molecular Vision|June 19, 2014
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosisAnna M Siemiatkowska, L Ingeborgh van den Born, Maria M van Genderen, et al.
The British Journal of Ophthalmology|May 19, 2021
Three-year results of phase I retinal gene therapy trial for CNGA3-mutated achromatopsia: results of a non randomised controlled trialFelix Friedrich Reichel, Stylianos Michalakis, Barbara Wilhelm, et al.
Scientific Reports|June 25, 2016
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone MonochromacyElena Buena-Atienza, Klaus Rüther, Britta Baumann, et al.
Plos One|December 15, 2015
Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)Hendrik P N Scholl, Anthony T Moore, Robert K Koenekoop, et al.
JAMA Ophthalmology|May 1, 2020
Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled TrialM Dominik Fischer, Stylianos Michalakis, Barbara Wilhelm, et al.
American Journal of Human Genetics|February 26, 2026
Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, causes a late-onset retinal dystrophyAbigail R Moye, Caitlyn L McCafferty, Siying Lin, et al.
JAMA Ophthalmology|October 15, 2020
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation TrialLaura Kuehlewein, Ditta Zobor, Sten Olof Andreasson, et al.
Human Mutation|September 2, 2011
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod responseBernd Wissinger, Simone Schaich, Britta Baumann, et al.
The Journal of Clinical Investigation|November 13, 2018
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathyMarkus Burkard, Susanne Kohl, Timm Krätzig, et al.
Pageof 6

Showing results (41-50 of 54) with videos related to

Sort By:
Pageof 6
Molecular Genetics & Genomic Medicine|January 29, 2015
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophyGaluh D N Astuti, Vincent Sun, Miriam Bauwens, et al.
Molecular Vision|June 19, 2014
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosisAnna M Siemiatkowska, L Ingeborgh van den Born, Maria M van Genderen, et al.
The British Journal of Ophthalmology|May 19, 2021
Three-year results of phase I retinal gene therapy trial for CNGA3-mutated achromatopsia: results of a non randomised controlled trialFelix Friedrich Reichel, Stylianos Michalakis, Barbara Wilhelm, et al.
Scientific Reports|June 25, 2016
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone MonochromacyElena Buena-Atienza, Klaus Rüther, Britta Baumann, et al.
Plos One|December 15, 2015
Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)Hendrik P N Scholl, Anthony T Moore, Robert K Koenekoop, et al.
JAMA Ophthalmology|May 1, 2020
Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled TrialM Dominik Fischer, Stylianos Michalakis, Barbara Wilhelm, et al.
American Journal of Human Genetics|February 26, 2026
Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, causes a late-onset retinal dystrophyAbigail R Moye, Caitlyn L McCafferty, Siying Lin, et al.
JAMA Ophthalmology|October 15, 2020
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation TrialLaura Kuehlewein, Ditta Zobor, Sten Olof Andreasson, et al.
Human Mutation|September 2, 2011
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod responseBernd Wissinger, Simone Schaich, Britta Baumann, et al.
The Journal of Clinical Investigation|November 13, 2018
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathyMarkus Burkard, Susanne Kohl, Timm Krätzig, et al.
Pageof 6