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Bernd Wissinger

Showing results (111-120 of 196) with videos related to

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American Journal of Human Genetics|September 9, 2006
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindnessChristina Zeitz, Barbara Kloeckener-Gruissem, Ursula Forster, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 29, 2016
Achromatopsia mutations target sequential steps of ATF6 activationWei-Chieh Chiang, Priscilla Chan, Bernd Wissinger, et al.
European Journal of Human Genetics : EJHG|July 12, 2002
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retinaKrisztina Wutz, Christian Sauer, Eberhart Zrenner, et al.
Brain : a Journal of Neurology|January 29, 2008
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusionClaudia Zanna, Anna Ghelli, Anna Maria Porcelli, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 6, 2009
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C geneBo Chang, Tanja Grau, Susann Dangel, et al.
Human Molecular Genetics|December 4, 2010
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsiaTanja Grau, Nikolai O Artemyev, Thomas Rosenberg, et al.
Journal of Medical Genetics|January 29, 2022
<i>DNAJC30</i> disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophySinja Kieninger, Ting Xiao, Nicole Weisschuh, et al.
Investigative Ophthalmology & Visual Science|November 9, 2017
Superior Retinal Gene Transfer and Biodistribution Profile of Subretinal Versus Intravitreal Delivery of AAV8 in Nonhuman PrimatesImmanuel P Seitz, Stylianos Michalakis, Barbara Wilhelm, et al.
European Journal of Human Genetics : EJHG|April 18, 2013
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophiesNicola Glöckle, Susanne Kohl, Julia Mohr, et al.
Translational Vision Science & Technology|January 24, 2023
Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical TrialAbraham A Mascio, Alejandro J Roman, Artur V Cideciyan, et al.
Pageof 20

Showing results (111-120 of 196) with videos related to

Sort By:
Pageof 20
American Journal of Human Genetics|September 9, 2006
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindnessChristina Zeitz, Barbara Kloeckener-Gruissem, Ursula Forster, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 29, 2016
Achromatopsia mutations target sequential steps of ATF6 activationWei-Chieh Chiang, Priscilla Chan, Bernd Wissinger, et al.
European Journal of Human Genetics : EJHG|July 12, 2002
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retinaKrisztina Wutz, Christian Sauer, Eberhart Zrenner, et al.
Brain : a Journal of Neurology|January 29, 2008
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusionClaudia Zanna, Anna Ghelli, Anna Maria Porcelli, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 6, 2009
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C geneBo Chang, Tanja Grau, Susann Dangel, et al.
Human Molecular Genetics|December 4, 2010
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsiaTanja Grau, Nikolai O Artemyev, Thomas Rosenberg, et al.
Journal of Medical Genetics|January 29, 2022
<i>DNAJC30</i> disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophySinja Kieninger, Ting Xiao, Nicole Weisschuh, et al.
Investigative Ophthalmology & Visual Science|November 9, 2017
Superior Retinal Gene Transfer and Biodistribution Profile of Subretinal Versus Intravitreal Delivery of AAV8 in Nonhuman PrimatesImmanuel P Seitz, Stylianos Michalakis, Barbara Wilhelm, et al.
European Journal of Human Genetics : EJHG|April 18, 2013
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophiesNicola Glöckle, Susanne Kohl, Julia Mohr, et al.
Translational Vision Science & Technology|January 24, 2023
Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical TrialAbraham A Mascio, Alejandro J Roman, Artur V Cideciyan, et al.
Pageof 20