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Nicole Weisschuh

Showing results (61-70 of 89) with videos related to

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Human Mutation|August 7, 2018
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsiaNicole Weisschuh, Katarina Stingl, Isabelle Audo, et al.
Ophthalmology|January 15, 2022
Genome-Wide Association Study Identifies Two Common Loci Associated with Pigment Dispersion Syndrome/Pigmentary Glaucoma and Implicates Myopia in its DevelopmentMark J Simcoe, Ameet Shah, Baojian Fan, et al.
Human Molecular Genetics|December 14, 2011
Variants in ASB10 are associated with open-angle glaucomaFrancesca Pasutto, Kate E Keller, Nicole Weisschuh, 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.
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|September 22, 2009
Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucomaFrancesca Pasutto, Tomoya Matsumoto, Christian Y Mardin, 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.
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.
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 9

Showing results (61-70 of 89) with videos related to

Sort By:
Pageof 9
Human Mutation|August 7, 2018
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsiaNicole Weisschuh, Katarina Stingl, Isabelle Audo, et al.
Ophthalmology|January 15, 2022
Genome-Wide Association Study Identifies Two Common Loci Associated with Pigment Dispersion Syndrome/Pigmentary Glaucoma and Implicates Myopia in its DevelopmentMark J Simcoe, Ameet Shah, Baojian Fan, et al.
Human Molecular Genetics|December 14, 2011
Variants in ASB10 are associated with open-angle glaucomaFrancesca Pasutto, Kate E Keller, Nicole Weisschuh, 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.
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|September 22, 2009
Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucomaFrancesca Pasutto, Tomoya Matsumoto, Christian Y Mardin, 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.
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.
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 9