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Bernd Wissinger

Showing results (141-150 of 196) with videos related to

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Brain : a Journal of Neurology|April 23, 2019
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmusAnja K Mayer, Muhammad Mahajnah, Mervyn G Thomas, 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 Mutation|October 2, 2004
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone SyndromeAlan F Wright, Adam C Reddick, Sharon B Schwartz, et al.
American Journal of Human Genetics|August 21, 2012
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsiaSusanne Kohl, Frauke Coppieters, Françoise Meire, et al.
Molecular Genetics & Genomic Medicine|January 29, 2015
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophyGaluh D N Astuti, Vincent Sun, Miriam Bauwens, et al.
Human Molecular Genetics|November 26, 2004
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degenerationZhenglin Yang, Bernardo V Alvarez, Christina Chakarova, et al.
Human Gene Therapy|September 27, 2013
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapyArtur V Cideciyan, Robert B Hufnagel, Joseph Carroll, et al.
International Journal of Molecular Sciences|October 16, 2024
Evaluation of Retinal Structure and Visual Function in Blue Cone Monochromacy to Develop Clinical Endpoints for L-opsin Gene TherapyArtur V Cideciyan, Alejandro J Roman, Raymond L Warner, et al.
Human Mutation|May 7, 2019
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 geneJulia Felden, Britta Baumann, Manir Ali, et al.
Human Genetics|June 27, 2003
Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exonJosé A J M van den Hurk, Dorien J R van de Pol, Bernd Wissinger, et al.
Pageof 20

Showing results (141-150 of 196) with videos related to

Sort By:
Pageof 20
Brain : a Journal of Neurology|April 23, 2019
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmusAnja K Mayer, Muhammad Mahajnah, Mervyn G Thomas, 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 Mutation|October 2, 2004
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone SyndromeAlan F Wright, Adam C Reddick, Sharon B Schwartz, et al.
American Journal of Human Genetics|August 21, 2012
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsiaSusanne Kohl, Frauke Coppieters, Françoise Meire, et al.
Molecular Genetics & Genomic Medicine|January 29, 2015
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophyGaluh D N Astuti, Vincent Sun, Miriam Bauwens, et al.
Human Molecular Genetics|November 26, 2004
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degenerationZhenglin Yang, Bernardo V Alvarez, Christina Chakarova, et al.
Human Gene Therapy|September 27, 2013
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapyArtur V Cideciyan, Robert B Hufnagel, Joseph Carroll, et al.
International Journal of Molecular Sciences|October 16, 2024
Evaluation of Retinal Structure and Visual Function in Blue Cone Monochromacy to Develop Clinical Endpoints for L-opsin Gene TherapyArtur V Cideciyan, Alejandro J Roman, Raymond L Warner, et al.
Human Mutation|May 7, 2019
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 geneJulia Felden, Britta Baumann, Manir Ali, et al.
Human Genetics|June 27, 2003
Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exonJosé A J M van den Hurk, Dorien J R van de Pol, Bernd Wissinger, et al.
Pageof 20