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Rob W J Collin

Showing results (121-130 of 149) with videos related to

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American Journal of Human Genetics|June 3, 2017
Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVREvangelia S Panagiotou, Carla Sanjurjo Soriano, James A Poulter, et al.
Ophthalmology|March 19, 2013
Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunctionSusanne Roosing, L Ingeborgh van den Born, Carel B Hoyng, et al.
American Journal of Human Genetics|February 18, 2010
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathyKonstantinos Nikopoulos, Christian Gilissen, Alexander Hoischen, et al.
American Journal of Human Genetics|August 13, 2011
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosaRıza Köksal Ozgül, Anna M Siemiatkowska, Didem Yücel, et al.
Investigative Ophthalmology & Visual Science|February 5, 2010
A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotypeKarin W Littink, Jan-Willem R Pott, Rob W J Collin, et al.
Human Mutation|March 27, 2010
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDPKonstantinos Nikopoulos, Hanka Venselaar, Rob W J Collin, et al.
Investigative Ophthalmology & Visual Science|June 18, 2010
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizationsKarin W Littink, Robert K Koenekoop, L Ingeborgh van den Born, et al.
Investigative Ophthalmology & Visual Science|September 8, 2018
Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290Dyon Valkenburg, Caroline van Cauwenbergh, Birgit Lorenz, et al.
Investigative Ophthalmology & Visual Science|October 1, 2010
IQCB1 mutations in patients with leber congenital amaurosisAlejandro Estrada-Cuzcano, Robert K Koenekoop, Frauke Coppieters, et al.
Molecular Therapy. Nucleic Acids|July 13, 2020
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt DiseaseMubeen Khan, Gavin Arno, Ana Fakin, et al.
Pageof 15

Showing results (121-130 of 149) with videos related to

Sort By:
Pageof 15
American Journal of Human Genetics|June 3, 2017
Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVREvangelia S Panagiotou, Carla Sanjurjo Soriano, James A Poulter, et al.
Ophthalmology|March 19, 2013
Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunctionSusanne Roosing, L Ingeborgh van den Born, Carel B Hoyng, et al.
American Journal of Human Genetics|February 18, 2010
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathyKonstantinos Nikopoulos, Christian Gilissen, Alexander Hoischen, et al.
American Journal of Human Genetics|August 13, 2011
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosaRıza Köksal Ozgül, Anna M Siemiatkowska, Didem Yücel, et al.
Investigative Ophthalmology & Visual Science|February 5, 2010
A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotypeKarin W Littink, Jan-Willem R Pott, Rob W J Collin, et al.
Human Mutation|March 27, 2010
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDPKonstantinos Nikopoulos, Hanka Venselaar, Rob W J Collin, et al.
Investigative Ophthalmology & Visual Science|June 18, 2010
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizationsKarin W Littink, Robert K Koenekoop, L Ingeborgh van den Born, et al.
Investigative Ophthalmology & Visual Science|September 8, 2018
Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290Dyon Valkenburg, Caroline van Cauwenbergh, Birgit Lorenz, et al.
Investigative Ophthalmology & Visual Science|October 1, 2010
IQCB1 mutations in patients with leber congenital amaurosisAlejandro Estrada-Cuzcano, Robert K Koenekoop, Frauke Coppieters, et al.
Molecular Therapy. Nucleic Acids|July 13, 2020
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt DiseaseMubeen Khan, Gavin Arno, Ana Fakin, et al.
Pageof 15