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Bernd Wissinger

Showing results (151-160 of 196) with videos related to

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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.
The British Journal of Ophthalmology|August 18, 2025
Safety and vision outcomes of subretinal gene supplementation therapy in <i>PDE6A</i>-associated retinitis pigmentosa: a non-randomised controlled trialFelix F Reichel, M Dominik Fischer, Katarina Stingl, et al.
American Journal of Human Genetics|June 11, 2013
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophySusanne Roosing, Klaus Rohrschneider, Avigail Beryozkin, et al.
Brain : a Journal of Neurology|April 17, 2026
Blood mtDNA markers of mitochondrial subtype and early-onset Parkinson's disease biologyAnne Grünewald, Felix Knab, Milan Zimmermann, et al.
The Journal of Clinical Investigation|September 25, 2019
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathyCamille Piro-Mégy, Emmanuelle Sarzi, Aleix Tarrés-Solé, et al.
Molecular Vision|March 25, 2015
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani originZeinab Ravesh, Mohammed E El Asrag, Nicole Weisschuh, et al.
Human Molecular Genetics|February 26, 2011
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16Valerio Carelli, Simone Schimpf, Nico Fuhrmann, 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.
Human Mutation|September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activationNicole Weisschuh, Marc Sturm, Britta Baumann, et al.
Plos One|January 15, 2016
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation SequencingNicole Weisschuh, Anja K Mayer, Tim M Strom, et al.
Pageof 20

Showing results (151-160 of 196) with videos related to

Sort By:
Pageof 20
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.
The British Journal of Ophthalmology|August 18, 2025
Safety and vision outcomes of subretinal gene supplementation therapy in <i>PDE6A</i>-associated retinitis pigmentosa: a non-randomised controlled trialFelix F Reichel, M Dominik Fischer, Katarina Stingl, et al.
American Journal of Human Genetics|June 11, 2013
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophySusanne Roosing, Klaus Rohrschneider, Avigail Beryozkin, et al.
Brain : a Journal of Neurology|April 17, 2026
Blood mtDNA markers of mitochondrial subtype and early-onset Parkinson's disease biologyAnne Grünewald, Felix Knab, Milan Zimmermann, et al.
The Journal of Clinical Investigation|September 25, 2019
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathyCamille Piro-Mégy, Emmanuelle Sarzi, Aleix Tarrés-Solé, et al.
Molecular Vision|March 25, 2015
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani originZeinab Ravesh, Mohammed E El Asrag, Nicole Weisschuh, et al.
Human Molecular Genetics|February 26, 2011
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16Valerio Carelli, Simone Schimpf, Nico Fuhrmann, 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.
Human Mutation|September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activationNicole Weisschuh, Marc Sturm, Britta Baumann, et al.
Plos One|January 15, 2016
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation SequencingNicole Weisschuh, Anja K Mayer, Tim M Strom, et al.
Pageof 20