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Rob W J Collin

Showing results (51-60 of 149) 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.
Plos One|July 28, 2018
Eyes shut homolog is important for the maintenance of photoreceptor morphology and visual function in zebrafishMuriël Messchaert, Margo Dona, Sanne Broekman, et al.
Molecular Vision|October 19, 2012
A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusenCodrut C Paun, Benjamin J Pijl, Anna M Siemiatkowska, et al.
The Annals of Otology, Rhinology, and Laryngology|June 15, 2007
Phenotype description of a novel DFNA9/COCH mutation, I109TRobert J Pauw, Patrick L M Huygen, Rob W J Collin, et al.
Molecular Vision|October 19, 2012
Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian familyAnna M Siemiatkowska, Galuh D N Astuti, Kentar Arimadyo, 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.
Investigative Ophthalmology & Visual Science|March 23, 2011
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 geneKonstantinos Nikopoulos, Isabelle Schrauwen, Marleen Simon, 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.
Drug Delivery and Translational Research|January 28, 2026
Overcoming size barriers in retinal gene therapy via lipid nanoparticle-mediated delivery of full-length eys DNASarah Goddaer, Emma De Coster, Elise Callens, et al.
Molecular Vision|September 16, 2009
A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani familyMaleeha Azam, Rob W J Collin, Muhammad Imran Khan, et al.
Pageof 15

Showing results (51-60 of 149) with videos related to

Sort By:
Pageof 15
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.
Plos One|July 28, 2018
Eyes shut homolog is important for the maintenance of photoreceptor morphology and visual function in zebrafishMuriël Messchaert, Margo Dona, Sanne Broekman, et al.
Molecular Vision|October 19, 2012
A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusenCodrut C Paun, Benjamin J Pijl, Anna M Siemiatkowska, et al.
The Annals of Otology, Rhinology, and Laryngology|June 15, 2007
Phenotype description of a novel DFNA9/COCH mutation, I109TRobert J Pauw, Patrick L M Huygen, Rob W J Collin, et al.
Molecular Vision|October 19, 2012
Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian familyAnna M Siemiatkowska, Galuh D N Astuti, Kentar Arimadyo, 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.
Investigative Ophthalmology & Visual Science|March 23, 2011
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 geneKonstantinos Nikopoulos, Isabelle Schrauwen, Marleen Simon, 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.
Drug Delivery and Translational Research|January 28, 2026
Overcoming size barriers in retinal gene therapy via lipid nanoparticle-mediated delivery of full-length eys DNASarah Goddaer, Emma De Coster, Elise Callens, et al.
Molecular Vision|September 16, 2009
A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani familyMaleeha Azam, Rob W J Collin, Muhammad Imran Khan, et al.
Pageof 15