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Silke Feil

Showing results (11-20 of 28) with videos related to

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Genes|January 8, 2025
Retinal Dystrophy Associated with Homozygous Variants in <i>NRL</i>Jordi Maggi, James V M Hanson, Lisa Kurmann, et al.
The European Journal of Neuroscience|June 13, 2008
Vascular changes in the cerebellum of Norrin /Ndph knockout mice correlate with high expression of Norrin and Frizzled-4Ulrich F O Luhmann, John Neidhardt, Barbara Kloeckener-Gruissem, et al.
International Journal of Molecular Sciences|September 14, 2024
Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy GenesJordi Maggi, Silke Feil, Jiradet Gloggnitzer, et al.
Genes|January 8, 2025
Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic <i>ABCA4</i> AlleleJordi Maggi, Silke Feil, Jiradet Gloggnitzer, et al.
Genes|April 28, 2023
Functional Analysis of a Novel, Non-Canonical <i>RPGR</i> Splice Variant Causing X-Linked Retinitis PigmentosaSamuel Koller, Tim Beltraminelli, Jordi Maggi, et al.
Investigative Ophthalmology & Visual Science|August 1, 2006
Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutationKatharina A Wycisk, Birgit Budde, Silke Feil, et al.
International Journal of Molecular Sciences|February 6, 2021
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal DiseasesJordi Maggi, Samuel Koller, Luzy Bähr, et al.
Investigative Ophthalmology & Visual Science|August 27, 2005
Role of the Norrie disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculatureUlrich F O Luhmann, Jihong Lin, Niyazi Acar, et al.
American Journal of Human Genetics|October 13, 2006
Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophyKatharina Agnes Wycisk, Christina Zeitz, Silke Feil, et al.
Genes|January 9, 2021
Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven GenesPatricia Haug, Samuel Koller, Jordi Maggi, et al.
Pageof 3

Showing results (11-20 of 28) with videos related to

Sort By:
Pageof 3
Genes|January 8, 2025
Retinal Dystrophy Associated with Homozygous Variants in <i>NRL</i>Jordi Maggi, James V M Hanson, Lisa Kurmann, et al.
The European Journal of Neuroscience|June 13, 2008
Vascular changes in the cerebellum of Norrin /Ndph knockout mice correlate with high expression of Norrin and Frizzled-4Ulrich F O Luhmann, John Neidhardt, Barbara Kloeckener-Gruissem, et al.
International Journal of Molecular Sciences|September 14, 2024
Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy GenesJordi Maggi, Silke Feil, Jiradet Gloggnitzer, et al.
Genes|January 8, 2025
Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic <i>ABCA4</i> AlleleJordi Maggi, Silke Feil, Jiradet Gloggnitzer, et al.
Genes|April 28, 2023
Functional Analysis of a Novel, Non-Canonical <i>RPGR</i> Splice Variant Causing X-Linked Retinitis PigmentosaSamuel Koller, Tim Beltraminelli, Jordi Maggi, et al.
Investigative Ophthalmology & Visual Science|August 1, 2006
Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutationKatharina A Wycisk, Birgit Budde, Silke Feil, et al.
International Journal of Molecular Sciences|February 6, 2021
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal DiseasesJordi Maggi, Samuel Koller, Luzy Bähr, et al.
Investigative Ophthalmology & Visual Science|August 27, 2005
Role of the Norrie disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculatureUlrich F O Luhmann, Jihong Lin, Niyazi Acar, et al.
American Journal of Human Genetics|October 13, 2006
Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophyKatharina Agnes Wycisk, Christina Zeitz, Silke Feil, et al.
Genes|January 9, 2021
Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven GenesPatricia Haug, Samuel Koller, Jordi Maggi, et al.
Pageof 3