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van den Born

Showing results (701-710 of 717) with videos related to

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Genome Medicine|January 10, 2018
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysisAlexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 7, 2025
Rationale and design of the Renal Lifecycle Trial assessing the Effect of Dapagliflozin on Cardiorenal Outcomes in Severe Chronic Kidney DiseaseWisanne M Bakker, Hiddo J L Heerspink, Stefan P Berger, et al.
The New England Journal of Medicine|May 5, 2015
Long-term effect of gene therapy on Leber's congenital amaurosisJames W B Bainbridge, Manjit S Mehat, Venki Sundaram, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2019
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotidesRiccardo Sangermano, Alejandro Garanto, Mubeen Khan, et al.
American Journal of Human Genetics|October 6, 2020
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis PigmentosaSuzanne E de Bruijn, Alessia Fiorentino, Daniele Ottaviani, et al.
Human Mutation|August 16, 2013
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlationsDonna S Mackay, Arundhati Dev Borman, Ruifang Sui, et al.
Ophthalmology. Retina|March 22, 2022
The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D GeneLeo C Hahn, Michalis Georgiou, Hind Almushattat, et al.
Investigative Ophthalmology & Visual Science|February 21, 2025
Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal DystrophiesLude Moekotte, Joke H de Boer, Sanne Hiddingh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2022
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohortPleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.
HGG Advances|February 14, 2023
Whole genome sequencing for <i>USH2A</i>-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correctionJanine Reurink, Nicole Weisschuh, Alejandro Garanto, et al.
Pageof 72

Showing results (701-710 of 717) with videos related to

Sort By:
Pageof 72
Genome Medicine|January 10, 2018
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysisAlexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 7, 2025
Rationale and design of the Renal Lifecycle Trial assessing the Effect of Dapagliflozin on Cardiorenal Outcomes in Severe Chronic Kidney DiseaseWisanne M Bakker, Hiddo J L Heerspink, Stefan P Berger, et al.
The New England Journal of Medicine|May 5, 2015
Long-term effect of gene therapy on Leber's congenital amaurosisJames W B Bainbridge, Manjit S Mehat, Venki Sundaram, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2019
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotidesRiccardo Sangermano, Alejandro Garanto, Mubeen Khan, et al.
American Journal of Human Genetics|October 6, 2020
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis PigmentosaSuzanne E de Bruijn, Alessia Fiorentino, Daniele Ottaviani, et al.
Human Mutation|August 16, 2013
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlationsDonna S Mackay, Arundhati Dev Borman, Ruifang Sui, et al.
Ophthalmology. Retina|March 22, 2022
The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D GeneLeo C Hahn, Michalis Georgiou, Hind Almushattat, et al.
Investigative Ophthalmology & Visual Science|February 21, 2025
Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal DystrophiesLude Moekotte, Joke H de Boer, Sanne Hiddingh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2022
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohortPleuntje J van der Sluijs, Marieke Joosten, Caroline Alby, et al.
HGG Advances|February 14, 2023
Whole genome sequencing for <i>USH2A</i>-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correctionJanine Reurink, Nicole Weisschuh, Alejandro Garanto, et al.
Pageof 72