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Alejandro Garanto

Showing results (31-40 of 82) with videos related to

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Plos One|November 14, 2013
Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosisAlejandro Garanto, Sylvia E C van Beersum, Theo A Peters, et al.
Experimental Eye Research|March 19, 2013
Specific sphingolipid content decrease in Cerkl knockdown mouse retinasAlejandro Garanto, Nawajes A Mandal, Meritxell Egido-Gabás, et al.
Nucleic Acids Research|August 9, 2024
Efficacy, biodistribution and safety comparison of chemically modified antisense oligonucleotides in the retinaIrene Vázquez-Domínguez, Alejandro Allo Anido, Lonneke Duijkers, et al.
Stem Cell Research|November 18, 2023
Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>ANuria Suárez-Herrera, Nico Leijsten, Silvia Albert, et al.
Nucleic Acid Therapeutics|December 14, 2022
Consensus Guidelines for the Design and <i>In Vitro</i> Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense OligonucleotidesAnnemieke Aartsma-Rus, Alejandro Garanto, Willeke van Roon-Mom, et al.
Investigative Ophthalmology & Visual Science|April 22, 2011
High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouseAlejandro Garanto, Marina Riera, Esther Pomares, et al.
Human Molecular Genetics|July 9, 2018
An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculatureDyah W Karjosukarso, Sebastianus H C van Gestel, Jieqiong Qu, et al.
Stem Cell Research|May 8, 2022
Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI geneSarah de Jong, Louet Koolen, Irene Vázquez-Domínguez, et al.
JCI Insight|April 18, 2023
Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axonemeSiebren Faber, Olivier Mercey, Katrin Junger, et al.
Investigative Ophthalmology & Visual Science|May 24, 2022
Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular DystrophyIrene Vázquez-Domínguez, Catherina H Z Li, Zeinab Fadaie, et al.
Pageof 9

Showing results (31-40 of 82) with videos related to

Sort By:
Pageof 9
Plos One|November 14, 2013
Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosisAlejandro Garanto, Sylvia E C van Beersum, Theo A Peters, et al.
Experimental Eye Research|March 19, 2013
Specific sphingolipid content decrease in Cerkl knockdown mouse retinasAlejandro Garanto, Nawajes A Mandal, Meritxell Egido-Gabás, et al.
Nucleic Acids Research|August 9, 2024
Efficacy, biodistribution and safety comparison of chemically modified antisense oligonucleotides in the retinaIrene Vázquez-Domínguez, Alejandro Allo Anido, Lonneke Duijkers, et al.
Stem Cell Research|November 18, 2023
Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>ANuria Suárez-Herrera, Nico Leijsten, Silvia Albert, et al.
Nucleic Acid Therapeutics|December 14, 2022
Consensus Guidelines for the Design and <i>In Vitro</i> Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense OligonucleotidesAnnemieke Aartsma-Rus, Alejandro Garanto, Willeke van Roon-Mom, et al.
Investigative Ophthalmology & Visual Science|April 22, 2011
High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouseAlejandro Garanto, Marina Riera, Esther Pomares, et al.
Human Molecular Genetics|July 9, 2018
An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculatureDyah W Karjosukarso, Sebastianus H C van Gestel, Jieqiong Qu, et al.
Stem Cell Research|May 8, 2022
Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI geneSarah de Jong, Louet Koolen, Irene Vázquez-Domínguez, et al.
JCI Insight|April 18, 2023
Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axonemeSiebren Faber, Olivier Mercey, Katrin Junger, et al.
Investigative Ophthalmology & Visual Science|May 24, 2022
Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular DystrophyIrene Vázquez-Domínguez, Catherina H Z Li, Zeinab Fadaie, et al.
Pageof 9