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Robert K Koenekoop

Showing results (81-90 of 122) with videos related to

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Molecular Vision|April 27, 2005
Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosisJosé A J M van den Hurk, Penny Rashbass, Ronald Roepman, et al.
Human Molecular Genetics|March 7, 2024
Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseasesDaniel C Brock, Meng Wang, Hafiz Muhammad Jafar Hussain, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|July 14, 2004
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutationsSharola Dharmaraj, Bart P Leroy, Melanie M Sohocki, 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.
The Journal of Clinical Investigation|May 25, 2011
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and miceKarsten Boldt, Dorus A Mans, Jungyeon Won, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 18, 2013
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease geneKoji M Nishiguchi, Richard G Tearle, Yangfan P Liu, et al.
Investigative Ophthalmology & Visual Science|December 7, 2007
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarraysAnneke I den Hollander, Irma Lopez, Suzanne Yzer, 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.
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|October 1, 2010
IQCB1 mutations in patients with leber congenital amaurosisAlejandro Estrada-Cuzcano, Robert K Koenekoop, Frauke Coppieters, et al.
Pageof 13

Showing results (81-90 of 122) with videos related to

Sort By:
Pageof 13
Molecular Vision|April 27, 2005
Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosisJosé A J M van den Hurk, Penny Rashbass, Ronald Roepman, et al.
Human Molecular Genetics|March 7, 2024
Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseasesDaniel C Brock, Meng Wang, Hafiz Muhammad Jafar Hussain, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|July 14, 2004
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutationsSharola Dharmaraj, Bart P Leroy, Melanie M Sohocki, 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.
The Journal of Clinical Investigation|May 25, 2011
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and miceKarsten Boldt, Dorus A Mans, Jungyeon Won, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 18, 2013
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease geneKoji M Nishiguchi, Richard G Tearle, Yangfan P Liu, et al.
Investigative Ophthalmology & Visual Science|December 7, 2007
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarraysAnneke I den Hollander, Irma Lopez, Suzanne Yzer, 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.
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|October 1, 2010
IQCB1 mutations in patients with leber congenital amaurosisAlejandro Estrada-Cuzcano, Robert K Koenekoop, Frauke Coppieters, et al.
Pageof 13