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Nicole Weisschuh

Showing results (31-40 of 89) with videos related to

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Investigative Ophthalmology & Visual Science|July 20, 2018
Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German CohortDitta Zobor, Gergely Zobor, Stephanie Hipp, et al.
Human Molecular Genetics|December 28, 2016
Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1Farina Vocke, Nicole Weisschuh, Valerio Marino, et al.
International Journal of Molecular Sciences|March 6, 2021
Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel <i>C1QTNF5</i> Missense VariantUlrich Kellner, Nicole Weisschuh, Silke Weinitz, et al.
American Journal of Ophthalmology|November 18, 2019
CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric StudyBritta Feldhaus, Nicole Weisschuh, Fadi Nasser, et al.
International Journal of Molecular Sciences|March 25, 2022
Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis PigmentosaAnna Avesani, Laura Bielefeld, Nicole Weisschuh, et al.
American Journal of Ophthalmology|June 23, 2024
Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal DystrophyJan-Philipp Bodenbender, Leon Bethge, Katarina Stingl, et al.
Genes|July 27, 2022
Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German CohortFadi Nasser, Susanne Kohl, Anne Kurtenbach, et al.
International Journal of Molecular Sciences|February 11, 2023
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal DystrophyJan-Philipp Bodenbender, Valerio Marino, Leon Bethge, et al.
Scientific Reports|August 3, 2017
CDHR1 mutations in retinal dystrophiesKatarina Stingl, Anja K Mayer, Pablo Llavona, et al.
Investigative Ophthalmology & Visual Science|May 9, 2022
Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis PigmentosaLaura Kuehlewein, Torsten Straßer, Gunnar Blumenstock, et al.
Pageof 9

Showing results (31-40 of 89) with videos related to

Sort By:
Pageof 9
Investigative Ophthalmology & Visual Science|July 20, 2018
Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German CohortDitta Zobor, Gergely Zobor, Stephanie Hipp, et al.
Human Molecular Genetics|December 28, 2016
Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1Farina Vocke, Nicole Weisschuh, Valerio Marino, et al.
International Journal of Molecular Sciences|March 6, 2021
Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel <i>C1QTNF5</i> Missense VariantUlrich Kellner, Nicole Weisschuh, Silke Weinitz, et al.
American Journal of Ophthalmology|November 18, 2019
CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric StudyBritta Feldhaus, Nicole Weisschuh, Fadi Nasser, et al.
International Journal of Molecular Sciences|March 25, 2022
Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis PigmentosaAnna Avesani, Laura Bielefeld, Nicole Weisschuh, et al.
American Journal of Ophthalmology|June 23, 2024
Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal DystrophyJan-Philipp Bodenbender, Leon Bethge, Katarina Stingl, et al.
Genes|July 27, 2022
Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German CohortFadi Nasser, Susanne Kohl, Anne Kurtenbach, et al.
International Journal of Molecular Sciences|February 11, 2023
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal DystrophyJan-Philipp Bodenbender, Valerio Marino, Leon Bethge, et al.
Scientific Reports|August 3, 2017
CDHR1 mutations in retinal dystrophiesKatarina Stingl, Anja K Mayer, Pablo Llavona, et al.
Investigative Ophthalmology & Visual Science|May 9, 2022
Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis PigmentosaLaura Kuehlewein, Torsten Straßer, Gunnar Blumenstock, et al.
Pageof 9