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Rob W J Collin

Showing results (21-30 of 149) with videos related to

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European Journal of Biochemistry|May 7, 2004
Identification and expression of the first nonmammalian amyloid-beta precursor-like protein APLP2 in the amphibian Xenopus laevisRob W J Collin, Denise van Strien, Jack A M Leunissen, et al.
Cold Spring Harbor Perspectives in Medicine|June 19, 2014
Genomic approaches for the discovery of genes mutated in inherited retinal degenerationAnna M Siemiatkowska, Rob W J Collin, Anneke I den Hollander, et al.
Advances in Experimental Medicine and Biology|May 4, 2018
Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying ChoroideremiaAlejandro Garanto, Saskia D van der Velde-Visser, Frans P M Cremers, et al.
International Journal of Molecular Sciences|April 30, 2021
Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in <i>ABCA4</i>Tomasz Z Tomkiewicz, Nuria Suárez-Herrera, Frans P M Cremers, et al.
Human Molecular Genetics|March 7, 2022
PCARE requires coiled coil, RP62 kinase-binding and EVH1 domain-binding motifs for ciliary expansionTess A V Afanasyeva, Yan-Ting Schnellbach, Toby J Gibson, et al.
Stem Cell Research|July 13, 2023
Generation of iPSC lines from three Stargardt patients carrying bi-allelic ABCA4 variantsDyah W Karjosukarso, Femke Bukkems, Lonneke Duijkers, et al.
Human Mutation|November 22, 2017
EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosaMuriël Messchaert, Lonneke Haer-Wigman, Muhammad I Khan, et al.
Cells|December 23, 2022
Correction of the Splicing Defect Caused by a Recurrent Variant in ABCA4 (c.769-784C>T) That Underlies Stargardt DiseaseTomasz Z Tomkiewicz, Sara E Nieuwenhuis, Frans P M Cremers, et al.
Therapeutic Advances in Rare Disease|September 27, 2024
Joining forces to develop individualized antisense oligonucleotides for patients with brain or eye diseases: the example of the Dutch Center for RNA TherapeuticsAnnemieke Aartsma-Rus, Rob W J Collin, Ype Elgersma, et al.
Journal of Medical Genetics|January 10, 2014
Prenylation defects in inherited retinal diseasesSusanne Roosing, Rob W J Collin, Anneke I den Hollander, et al.
Pageof 15

Showing results (21-30 of 149) with videos related to

Sort By:
Pageof 15
European Journal of Biochemistry|May 7, 2004
Identification and expression of the first nonmammalian amyloid-beta precursor-like protein APLP2 in the amphibian Xenopus laevisRob W J Collin, Denise van Strien, Jack A M Leunissen, et al.
Cold Spring Harbor Perspectives in Medicine|June 19, 2014
Genomic approaches for the discovery of genes mutated in inherited retinal degenerationAnna M Siemiatkowska, Rob W J Collin, Anneke I den Hollander, et al.
Advances in Experimental Medicine and Biology|May 4, 2018
Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying ChoroideremiaAlejandro Garanto, Saskia D van der Velde-Visser, Frans P M Cremers, et al.
International Journal of Molecular Sciences|April 30, 2021
Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in <i>ABCA4</i>Tomasz Z Tomkiewicz, Nuria Suárez-Herrera, Frans P M Cremers, et al.
Human Molecular Genetics|March 7, 2022
PCARE requires coiled coil, RP62 kinase-binding and EVH1 domain-binding motifs for ciliary expansionTess A V Afanasyeva, Yan-Ting Schnellbach, Toby J Gibson, et al.
Stem Cell Research|July 13, 2023
Generation of iPSC lines from three Stargardt patients carrying bi-allelic ABCA4 variantsDyah W Karjosukarso, Femke Bukkems, Lonneke Duijkers, et al.
Human Mutation|November 22, 2017
EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosaMuriël Messchaert, Lonneke Haer-Wigman, Muhammad I Khan, et al.
Cells|December 23, 2022
Correction of the Splicing Defect Caused by a Recurrent Variant in ABCA4 (c.769-784C>T) That Underlies Stargardt DiseaseTomasz Z Tomkiewicz, Sara E Nieuwenhuis, Frans P M Cremers, et al.
Therapeutic Advances in Rare Disease|September 27, 2024
Joining forces to develop individualized antisense oligonucleotides for patients with brain or eye diseases: the example of the Dutch Center for RNA TherapeuticsAnnemieke Aartsma-Rus, Rob W J Collin, Ype Elgersma, et al.
Journal of Medical Genetics|January 10, 2014
Prenylation defects in inherited retinal diseasesSusanne Roosing, Rob W J Collin, Anneke I den Hollander, et al.
Pageof 15