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P M Cremers

Showing results (51-60 of 307) with videos related to

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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 11, 2014
Chromosomal aberrations in cerebral visual impairmentDaniëlle G M Bosch, F Nienke Boonstra, Margot R F Reijnders, et al.
Plos One|August 29, 2012
Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotypeQin Liu, Rob W J Collin, Frans P M Cremers, et al.
Progress in Retinal and Eye Research|March 11, 2008
The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS geneCamiel J F Boon, Anneke I den Hollander, Carel B Hoyng, et al.
Investigative Ophthalmology & Visual Science|November 24, 2004
A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophyAlessandra Maugeri, Francoise Meire, Carel B Hoyng, et al.
Molecular Vision|October 26, 2007
Identification and functional characterization of a novel MYOC mutation in two primary open angle glaucoma families from The NetherlandsBarend F T Hogewind, Katarina Gaplovska-Kysela, Thomas Theelen, et al.
Progress in Retinal and Eye Research|May 27, 2014
Causes and consequences of inherited cone disordersSusanne Roosing, Alberta A H J Thiadens, Carel B Hoyng, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|July 11, 2007
Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosaAnneke I den Hollander, Janneke J C van Lith-Verhoeven, Maarten L Arends, et al.
Molecular Genetics & Genomic Medicine|April 6, 2019
The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophySanne K Verbakel, Zeinab Fadaie, B Jeroen Klevering, 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.
Human Mutation|August 10, 2019
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4Zeinab Fadaie, Mubeen Khan, Marta Del Pozo-Valero, et al.
Pageof 31

Showing results (51-60 of 307) with videos related to

Sort By:
Pageof 31
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 11, 2014
Chromosomal aberrations in cerebral visual impairmentDaniëlle G M Bosch, F Nienke Boonstra, Margot R F Reijnders, et al.
Plos One|August 29, 2012
Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotypeQin Liu, Rob W J Collin, Frans P M Cremers, et al.
Progress in Retinal and Eye Research|March 11, 2008
The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS geneCamiel J F Boon, Anneke I den Hollander, Carel B Hoyng, et al.
Investigative Ophthalmology & Visual Science|November 24, 2004
A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophyAlessandra Maugeri, Francoise Meire, Carel B Hoyng, et al.
Molecular Vision|October 26, 2007
Identification and functional characterization of a novel MYOC mutation in two primary open angle glaucoma families from The NetherlandsBarend F T Hogewind, Katarina Gaplovska-Kysela, Thomas Theelen, et al.
Progress in Retinal and Eye Research|May 27, 2014
Causes and consequences of inherited cone disordersSusanne Roosing, Alberta A H J Thiadens, Carel B Hoyng, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|July 11, 2007
Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosaAnneke I den Hollander, Janneke J C van Lith-Verhoeven, Maarten L Arends, et al.
Molecular Genetics & Genomic Medicine|April 6, 2019
The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophySanne K Verbakel, Zeinab Fadaie, B Jeroen Klevering, 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.
Human Mutation|August 10, 2019
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4Zeinab Fadaie, Mubeen Khan, Marta Del Pozo-Valero, et al.
Pageof 31