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Bernd Wissinger

Showing results (131-140 of 196) with videos related to

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Ophthalmology|January 25, 2015
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene TherapyLina Zelinger, Artur V Cideciyan, Susanne Kohl, et al.
European Journal of Human Genetics : EJHG|August 17, 2017
Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 geneAnna Skorczyk-Werner, Wei-Chieh Chiang, Anna Wawrocka, et al.
Cellular and Molecular Life Sciences : CMLS|May 6, 2015
Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotypeTimm Schubert, Corinna Gleiser, Peter Heiduschka, et al.
The British Journal of Ophthalmology|January 21, 2021
Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovecKrunoslav Stingl, Melanie Kempf, Karl U Bartz-Schmidt, et al.
International Journal of Molecular Sciences|March 6, 2021
Clinical Phenotype of <i>PDE6B</i>-Associated Retinitis PigmentosaLaura Kuehlewein, Ditta Zobor, Katarina Stingl, et al.
Brain : a Journal of Neurology|June 28, 2014
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifierTobias Bonifert, Kathrin N Karle, Felix Tonagel, et al.
Hypertension (Dallas, Tex. : 1979)|May 19, 2004
Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertensionNikola Jeck, Siegfried Waldegger, Angelika Lampert, et al.
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.
Human Molecular Genetics|July 19, 2015
Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotypeVithiyanjali Sothilingam, Marina Garcia Garrido, Kangwei Jiao, et al.
Scientific Reports|October 8, 2020
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophyMarie Anne-Catherine Neumann, Dajana Grossmann, Simone Schimpf-Linzenbold, et al.
Pageof 20

Showing results (131-140 of 196) with videos related to

Sort By:
Pageof 20
Ophthalmology|January 25, 2015
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene TherapyLina Zelinger, Artur V Cideciyan, Susanne Kohl, et al.
European Journal of Human Genetics : EJHG|August 17, 2017
Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 geneAnna Skorczyk-Werner, Wei-Chieh Chiang, Anna Wawrocka, et al.
Cellular and Molecular Life Sciences : CMLS|May 6, 2015
Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotypeTimm Schubert, Corinna Gleiser, Peter Heiduschka, et al.
The British Journal of Ophthalmology|January 21, 2021
Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovecKrunoslav Stingl, Melanie Kempf, Karl U Bartz-Schmidt, et al.
International Journal of Molecular Sciences|March 6, 2021
Clinical Phenotype of <i>PDE6B</i>-Associated Retinitis PigmentosaLaura Kuehlewein, Ditta Zobor, Katarina Stingl, et al.
Brain : a Journal of Neurology|June 28, 2014
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifierTobias Bonifert, Kathrin N Karle, Felix Tonagel, et al.
Hypertension (Dallas, Tex. : 1979)|May 19, 2004
Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertensionNikola Jeck, Siegfried Waldegger, Angelika Lampert, et al.
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.
Human Molecular Genetics|July 19, 2015
Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotypeVithiyanjali Sothilingam, Marina Garcia Garrido, Kangwei Jiao, et al.
Scientific Reports|October 8, 2020
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophyMarie Anne-Catherine Neumann, Dajana Grossmann, Simone Schimpf-Linzenbold, et al.
Pageof 20