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P M Cremers

Showing results (21-30 of 307) with videos related to

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Nederlands Tijdschrift Voor Geneeskunde|November 3, 2005
[From gene to disease; Leber congenital amaurosis (LCA)]S Yzer, L I van den Born, F P M Cremers, et al.
European Journal of Human Genetics : EJHG|September 6, 2018
Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephalyDyah W Karjosukarso, Frans P M Cremers, C Erik van Nouhuys, et al.
Genes|September 27, 2025
Minigene Splice Assays Allow Pathogenicity Reclassification of <i>RPE65</i> Variants of Uncertain SignificanceDaan M Panneman, Erica G M Boonen, Zelia Corradi, et al.
Human Molecular Genetics|May 17, 2002
Molecular genetics of Leber congenital amaurosisFrans P M Cremers, José A J M van den Hurk, Anneke I den Hollander
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.
Investigative Ophthalmology & Visual Science|May 31, 2002
Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) geneB Jeroen Klevering, Anita Blankenagel, Alessandra Maugeri, 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 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.
Human Molecular Genetics|July 31, 2012
Non-syndromic retinal ciliopathies: translating gene discovery into therapyAlejandro Estrada-Cuzcano, Ronald Roepman, Frans P M Cremers, et al.
Pageof 31

Showing results (21-30 of 307) with videos related to

Sort By:
Pageof 31
Nederlands Tijdschrift Voor Geneeskunde|November 3, 2005
[From gene to disease; Leber congenital amaurosis (LCA)]S Yzer, L I van den Born, F P M Cremers, et al.
European Journal of Human Genetics : EJHG|September 6, 2018
Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephalyDyah W Karjosukarso, Frans P M Cremers, C Erik van Nouhuys, et al.
Genes|September 27, 2025
Minigene Splice Assays Allow Pathogenicity Reclassification of <i>RPE65</i> Variants of Uncertain SignificanceDaan M Panneman, Erica G M Boonen, Zelia Corradi, et al.
Human Molecular Genetics|May 17, 2002
Molecular genetics of Leber congenital amaurosisFrans P M Cremers, José A J M van den Hurk, Anneke I den Hollander
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.
Investigative Ophthalmology & Visual Science|May 31, 2002
Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) geneB Jeroen Klevering, Anita Blankenagel, Alessandra Maugeri, 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 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.
Human Molecular Genetics|July 31, 2012
Non-syndromic retinal ciliopathies: translating gene discovery into therapyAlejandro Estrada-Cuzcano, Ronald Roepman, Frans P M Cremers, et al.
Pageof 31