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J Collin

Showing results (431-440 of 449) with videos related to

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Human Molecular Genetics|April 18, 2015
Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterationsAlmudena Avila-Fernandez, Raquel Perez-Carro, Marta Corton, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 22, 2020
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formationJulio C Corral-Serrano, Ideke J C Lamers, Jeroen van Reeuwijk, et al.
Human Molecular Genetics|August 30, 2014
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndromeKinga M Bujakowska, Qi Zhang, Anna M Siemiatkowska, et al.
American Journal of Human Genetics|August 3, 2010
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosaDikla Bandah-Rozenfeld, Rob W J Collin, Eyal Banin, et al.
American Journal of Human Genetics|July 21, 2009
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disordersAlberta A H J Thiadens, Anneke I den Hollander, Susanne Roosing, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 30, 2013
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculatureRob W J Collin, Konstantinos Nikopoulos, Margo Dona, et al.
Nature Genetics|October 28, 2008
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humansZubair M Ahmed, Saber Masmoudi, Ersan Kalay, et al.
American Journal of Human Genetics|December 20, 2011
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementAlejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, et al.
Investigative Ophthalmology & Visual Science|January 11, 2011
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch populationRob W J Collin, L Ingeborgh van den Born, B Jeroen Klevering, et al.
Human Mutation|February 16, 2012
Next-generation genetic testing for retinitis pigmentosaKornelia Neveling, Rob W J Collin, Christian Gilissen, et al.
Pageof 45

Showing results (431-440 of 449) with videos related to

Sort By:
Pageof 45
Human Molecular Genetics|April 18, 2015
Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterationsAlmudena Avila-Fernandez, Raquel Perez-Carro, Marta Corton, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 22, 2020
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formationJulio C Corral-Serrano, Ideke J C Lamers, Jeroen van Reeuwijk, et al.
Human Molecular Genetics|August 30, 2014
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndromeKinga M Bujakowska, Qi Zhang, Anna M Siemiatkowska, et al.
American Journal of Human Genetics|August 3, 2010
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosaDikla Bandah-Rozenfeld, Rob W J Collin, Eyal Banin, et al.
American Journal of Human Genetics|July 21, 2009
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disordersAlberta A H J Thiadens, Anneke I den Hollander, Susanne Roosing, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 30, 2013
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculatureRob W J Collin, Konstantinos Nikopoulos, Margo Dona, et al.
Nature Genetics|October 28, 2008
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humansZubair M Ahmed, Saber Masmoudi, Ersan Kalay, et al.
American Journal of Human Genetics|December 20, 2011
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementAlejandro Estrada-Cuzcano, Kornelia Neveling, Susanne Kohl, et al.
Investigative Ophthalmology & Visual Science|January 11, 2011
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch populationRob W J Collin, L Ingeborgh van den Born, B Jeroen Klevering, et al.
Human Mutation|February 16, 2012
Next-generation genetic testing for retinitis pigmentosaKornelia Neveling, Rob W J Collin, Christian Gilissen, et al.
Pageof 45