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van den Born

Showing results (641-650 of 717) with videos related to

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Retina (Philadelphia, Pa.)|February 8, 2020
LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONSLaurence H M Pierrache, Babak Ghafaryasl, Muhammad I Khan, 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.
JAMA Ophthalmology|April 11, 2024
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-AnalysisStéphanie S Cornelis, Joanna IntHout, Esmee H Runhart, 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.
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.
NPJ Genomic Medicine|November 19, 2021
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseasesZeinab Fadaie, Laura Whelan, Tamar Ben-Yosef, et al.
Plos One|August 6, 2011
Hypertension is associated with marked alterations in sphingolipid biology: a potential role for ceramideLéon J A Spijkers, Rob F P van den Akker, Ben J A Janssen, et al.
Transplantation|August 31, 2023
Comparison of 2 Immunosuppression Minimization Strategies in Kidney Transplantation: The ALLEGRO TrialJoost C van den Born, Soufian Meziyerh, Priya Vart, et al.
Pageof 72

Showing results (641-650 of 717) with videos related to

Sort By:
Pageof 72
Retina (Philadelphia, Pa.)|February 8, 2020
LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONSLaurence H M Pierrache, Babak Ghafaryasl, Muhammad I Khan, 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.
JAMA Ophthalmology|April 11, 2024
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-AnalysisStéphanie S Cornelis, Joanna IntHout, Esmee H Runhart, 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.
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.
NPJ Genomic Medicine|November 19, 2021
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseasesZeinab Fadaie, Laura Whelan, Tamar Ben-Yosef, et al.
Plos One|August 6, 2011
Hypertension is associated with marked alterations in sphingolipid biology: a potential role for ceramideLéon J A Spijkers, Rob F P van den Akker, Ben J A Janssen, et al.
Transplantation|August 31, 2023
Comparison of 2 Immunosuppression Minimization Strategies in Kidney Transplantation: The ALLEGRO TrialJoost C van den Born, Soufian Meziyerh, Priya Vart, et al.
Pageof 72