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Robert K Koenekoop

Showing results (61-70 of 122) with videos related to

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Ophthalmology|September 18, 2014
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophySusanne Roosing, L Ingeborgh van den Born, Riccardo Sangermano, et al.
American Journal of Human Genetics|November 4, 2008
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosaRob W J Collin, Karin W Littink, B Jeroen Klevering, et al.
Ophthalmology|June 12, 2010
Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotypeKarin W Littink, L Ingeborgh van den Born, Robert K Koenekoop, et al.
Investigative Ophthalmology & Visual Science|June 5, 2012
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 geneTomas R Burke, Gerald A Fishman, Jana Zernant, et al.
Investigative Ophthalmology & Visual Science|January 1, 2016
Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane AbnormalitiesAlice Yang Zhang, Naveen Mysore, Hojatollah Vali, et al.
Molecular Genetics & Genomic Medicine|January 29, 2015
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophyGaluh D N Astuti, Vincent Sun, Miriam Bauwens, et al.
Ophthalmology|July 31, 2012
Cumulative effect of risk alleles in CFH, ARMS2, and VEGFA on the response to ranibizumab treatment in age-related macular degenerationDzenita Smailhodzic, Philipp S Muether, John Chen, et al.
Biorxiv : the Preprint Server for Biology|February 15, 2023
Systematic assessment of the contribution of structural variants to inherited retinal diseasesShu Wen, Meng Wang, Xinye Qian, et al.
Human Molecular Genetics|February 22, 2023
Systematic assessment of the contribution of structural variants to inherited retinal diseasesShu Wen, Meng Wang, Xinye Qian, et al.
The Journal of Clinical Investigation|May 5, 2010
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndromeInga Ebermann, Jennifer B Phillips, Max C Liebau, et al.
Pageof 13

Showing results (61-70 of 122) with videos related to

Sort By:
Pageof 13
Ophthalmology|September 18, 2014
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophySusanne Roosing, L Ingeborgh van den Born, Riccardo Sangermano, et al.
American Journal of Human Genetics|November 4, 2008
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosaRob W J Collin, Karin W Littink, B Jeroen Klevering, et al.
Ophthalmology|June 12, 2010
Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotypeKarin W Littink, L Ingeborgh van den Born, Robert K Koenekoop, et al.
Investigative Ophthalmology & Visual Science|June 5, 2012
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 geneTomas R Burke, Gerald A Fishman, Jana Zernant, et al.
Investigative Ophthalmology & Visual Science|January 1, 2016
Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane AbnormalitiesAlice Yang Zhang, Naveen Mysore, Hojatollah Vali, et al.
Molecular Genetics & Genomic Medicine|January 29, 2015
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophyGaluh D N Astuti, Vincent Sun, Miriam Bauwens, et al.
Ophthalmology|July 31, 2012
Cumulative effect of risk alleles in CFH, ARMS2, and VEGFA on the response to ranibizumab treatment in age-related macular degenerationDzenita Smailhodzic, Philipp S Muether, John Chen, et al.
Biorxiv : the Preprint Server for Biology|February 15, 2023
Systematic assessment of the contribution of structural variants to inherited retinal diseasesShu Wen, Meng Wang, Xinye Qian, et al.
Human Molecular Genetics|February 22, 2023
Systematic assessment of the contribution of structural variants to inherited retinal diseasesShu Wen, Meng Wang, Xinye Qian, et al.
The Journal of Clinical Investigation|May 5, 2010
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndromeInga Ebermann, Jennifer B Phillips, Max C Liebau, et al.
Pageof 13