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Alejandro Garanto

Showing results (41-50 of 82) with videos related to

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Human Molecular Genetics|April 24, 2016
In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide deliveryAlejandro Garanto, Daniel C Chung, Lonneke Duijkers, et al.
Stem Cell Research|May 8, 2022
Generation of an iPSC line (SCTCi015-A) and isogenic control line (SCTCi015-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.
International Journal of Molecular Sciences|March 10, 2018
Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290Lonneke Duijkers, L Ingeborgh van den Born, John Neidhardt, et al.
Plos One|March 3, 2016
Expression Atlas of the Deubiquitinating Enzymes in the Adult Mouse Retina, Their Evolutionary Diversification and Phenotypic RolesMariona Esquerdo, Xavier Grau-Bové, Alejandro Garanto, et al.
Stem Cell Research|February 5, 2022
Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65Irene Vázquez-Domínguez, Michael Kwint, Hester Y Kroes, et al.
Journal of Inherited Metabolic Disease|April 6, 2023
Exploring genotype-phenotype correlations in glutaric aciduria type 1Imke M E Schuurmans, Bianca Dimitrov, Julian Schröter, et al.
Glycobiology|May 18, 2026
Cellular homeostasis of N-acetylneuraminic acid and non-canonical sialic acids is mediated by human N-acetylneuraminate lyaseSjanie Huang, Iris Harmsen, Moritz Rahm, et al.
Investigative Ophthalmology & Visual Science|February 26, 2020
Modeling ZNF408-Associated FEVR in Zebrafish Results in Abnormal Retinal VasculatureDyah W Karjosukarso, Zaheer Ali, Theo A Peters, et al.
Progress in Retinal and Eye Research|February 21, 2021
Implications of genetic variation in the complement system in age-related macular degenerationSarah de Jong, Giuliana Gagliardi, Alejandro Garanto, et al.
American Journal of Human Genetics|March 13, 2018
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt DiseaseSilvia Albert, Alejandro Garanto, Riccardo Sangermano, et al.
Pageof 9

Showing results (41-50 of 82) with videos related to

Sort By:
Pageof 9
Human Molecular Genetics|April 24, 2016
In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide deliveryAlejandro Garanto, Daniel C Chung, Lonneke Duijkers, et al.
Stem Cell Research|May 8, 2022
Generation of an iPSC line (SCTCi015-A) and isogenic control line (SCTCi015-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.
International Journal of Molecular Sciences|March 10, 2018
Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290Lonneke Duijkers, L Ingeborgh van den Born, John Neidhardt, et al.
Plos One|March 3, 2016
Expression Atlas of the Deubiquitinating Enzymes in the Adult Mouse Retina, Their Evolutionary Diversification and Phenotypic RolesMariona Esquerdo, Xavier Grau-Bové, Alejandro Garanto, et al.
Stem Cell Research|February 5, 2022
Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65Irene Vázquez-Domínguez, Michael Kwint, Hester Y Kroes, et al.
Journal of Inherited Metabolic Disease|April 6, 2023
Exploring genotype-phenotype correlations in glutaric aciduria type 1Imke M E Schuurmans, Bianca Dimitrov, Julian Schröter, et al.
Glycobiology|May 18, 2026
Cellular homeostasis of N-acetylneuraminic acid and non-canonical sialic acids is mediated by human N-acetylneuraminate lyaseSjanie Huang, Iris Harmsen, Moritz Rahm, et al.
Investigative Ophthalmology & Visual Science|February 26, 2020
Modeling ZNF408-Associated FEVR in Zebrafish Results in Abnormal Retinal VasculatureDyah W Karjosukarso, Zaheer Ali, Theo A Peters, et al.
Progress in Retinal and Eye Research|February 21, 2021
Implications of genetic variation in the complement system in age-related macular degenerationSarah de Jong, Giuliana Gagliardi, Alejandro Garanto, et al.
American Journal of Human Genetics|March 13, 2018
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt DiseaseSilvia Albert, Alejandro Garanto, Riccardo Sangermano, et al.
Pageof 9