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Bernd Wissinger

Showing results (51-60 of 196) with videos related to

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European Journal of Human Genetics : EJHG|July 9, 2015
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activationAnja K Mayer, Klaus Rohrschneider, Tim M Strom, et al.
International Journal of Molecular Sciences|January 20, 2021
X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i>RPGR</i>Friederike Kortüm, Sinja Kieninger, Pascale Mazzola, et al.
Frontiers in Neuroscience|August 28, 2020
Foveal Therapy in Blue Cone Monochromacy: Predictions of Visual Potential From Artificial IntelligenceAlexander Sumaroka, Artur V Cideciyan, Rebecca Sheplock, et al.
Experimental Eye Research|May 16, 2006
Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophySharareh Dadgar, Olivier Hagens, Seyed Razi Dadgar, et al.
Molecular Therapy. Nucleic Acids|January 26, 2024
Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variantsPietro De Angeli, Arturo Flores-Tufiño, Katarina Stingl, et al.
American Journal of Human Genetics|June 22, 2002
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsiaSusanne Kohl, Britta Baumann, Thomas Rosenberg, et al.
Plos One|December 22, 2018
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosisNicole Weisschuh, Britta Feldhaus, Muhammad Imran Khan, et al.
Investigative Ophthalmology & Visual Science|October 27, 2004
OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retinaUlrike E A Pesch, Julia E Fries, Stefanie Bette, et al.
BMC Medical Genetics|April 10, 2019
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reportsKatja Kloth, Matthis Synofzik, Christoph Kernstock, et al.
Investigative Ophthalmology & Visual Science|April 2, 2026
Identification of Brimonidine as a Novel Substrate of Organic Cation Transporters OCT2 and MATE1 Expressed in Human EyeCharlotte Kölz, Claudia Neul, Ute Hofmann, et al.
Pageof 20

Showing results (51-60 of 196) with videos related to

Sort By:
Pageof 20
European Journal of Human Genetics : EJHG|July 9, 2015
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activationAnja K Mayer, Klaus Rohrschneider, Tim M Strom, et al.
International Journal of Molecular Sciences|January 20, 2021
X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i>RPGR</i>Friederike Kortüm, Sinja Kieninger, Pascale Mazzola, et al.
Frontiers in Neuroscience|August 28, 2020
Foveal Therapy in Blue Cone Monochromacy: Predictions of Visual Potential From Artificial IntelligenceAlexander Sumaroka, Artur V Cideciyan, Rebecca Sheplock, et al.
Experimental Eye Research|May 16, 2006
Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophySharareh Dadgar, Olivier Hagens, Seyed Razi Dadgar, et al.
Molecular Therapy. Nucleic Acids|January 26, 2024
Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variantsPietro De Angeli, Arturo Flores-Tufiño, Katarina Stingl, et al.
American Journal of Human Genetics|June 22, 2002
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsiaSusanne Kohl, Britta Baumann, Thomas Rosenberg, et al.
Plos One|December 22, 2018
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosisNicole Weisschuh, Britta Feldhaus, Muhammad Imran Khan, et al.
Investigative Ophthalmology & Visual Science|October 27, 2004
OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retinaUlrike E A Pesch, Julia E Fries, Stefanie Bette, et al.
BMC Medical Genetics|April 10, 2019
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reportsKatja Kloth, Matthis Synofzik, Christoph Kernstock, et al.
Investigative Ophthalmology & Visual Science|April 2, 2026
Identification of Brimonidine as a Novel Substrate of Organic Cation Transporters OCT2 and MATE1 Expressed in Human EyeCharlotte Kölz, Claudia Neul, Ute Hofmann, et al.
Pageof 20