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Bernd Wissinger

Showing results (161-170 of 196) with videos related to

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Plos One|August 11, 2012
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathyAlessandro Achilli, Luisa Iommarini, Anna Olivieri, et al.
Human Molecular Genetics|November 5, 2005
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycleDebra A Thompson, Andreas R Janecke, Jessica Lange, 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.
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.
American Journal of Human Genetics|October 10, 2007
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophyChristina F Chakarova, Myrto G Papaioannou, Hemant Khanna, et al.
Movement Disorders Clinical Practice|February 10, 2022
Biallelic Loss-of-Function <i>NDUFA12</i> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic AtrophyFrancesca Magrinelli, Elisa Cali, Vinícius Lopes Braga, et al.
European Journal of Human Genetics : EJHG|January 20, 2005
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsiaSusanne Kohl, Balazs Varsanyi, Gesine Abadin Antunes, et al.
American Journal of Human Genetics|December 20, 2011
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementAlejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, et al.
Ophthalmic Epidemiology|January 29, 2013
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data managementBeatrice Bocquet, Annie Lacroux, Marie-Odile Surget, et al.
Pageof 20

Showing results (161-170 of 196) with videos related to

Sort By:
Pageof 20
Plos One|August 11, 2012
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathyAlessandro Achilli, Luisa Iommarini, Anna Olivieri, et al.
Human Molecular Genetics|November 5, 2005
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycleDebra A Thompson, Andreas R Janecke, Jessica Lange, 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.
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.
American Journal of Human Genetics|October 10, 2007
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophyChristina F Chakarova, Myrto G Papaioannou, Hemant Khanna, et al.
Movement Disorders Clinical Practice|February 10, 2022
Biallelic Loss-of-Function <i>NDUFA12</i> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic AtrophyFrancesca Magrinelli, Elisa Cali, Vinícius Lopes Braga, et al.
European Journal of Human Genetics : EJHG|January 20, 2005
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsiaSusanne Kohl, Balazs Varsanyi, Gesine Abadin Antunes, et al.
American Journal of Human Genetics|December 20, 2011
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementAlejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, et al.
Ophthalmic Epidemiology|January 29, 2013
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data managementBeatrice Bocquet, Annie Lacroux, Marie-Odile Surget, et al.
Pageof 20