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Maria M van Genderen

Showing results (41-50 of 74) with videos related to

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Molecular Vision|December 5, 2009
A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosaMaleeha Azam, Muhammad Imran Khan, Andreas Gal, et al.
American Journal of Human Genetics|August 21, 2012
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsiaSusanne Kohl, Frauke Coppieters, Françoise Meire, et al.
Acta Ophthalmologica|November 25, 2025
Vitreoretinal complications and surgical outcomes in patients with X-linked retinoschisisJonathan Hensman, Leo C Hahn, Mary J van Schooneveld, et al.
Investigative Ophthalmology & Visual Science|January 14, 2022
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and DifferencesCharlotte C Kruijt, Libe Gradstein, Arthur A Bergen, et al.
NPJ Genomic Medicine|November 9, 2022
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPALonneke Haer-Wigman, Amber den Ouden, Maria M van Genderen, et al.
European Journal of Human Genetics : EJHG|February 3, 2018
A clinical and molecular characterisation of CRB1-associated maculopathyKamron N Khan, Anthony Robson, Omar A R Mahroo, et al.
Investigative Ophthalmology & Visual Science|December 17, 2008
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorderKarin W Littink, Maria M van Genderen, Rob W J Collin, et al.
Ophthalmology|March 26, 2017
Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up StudyMays Talib, Mary J van Schooneveld, Maria M van Genderen, et al.
Progress in Retinal and Eye Research|December 29, 2024
Syndromic retinitis pigmentosaJessica S Karuntu, Hind Almushattat, Xuan-Thanh-An Nguyen, et al.
Cancers|December 23, 2022
Impact of Bevacizumab on Visual Function, Tumor Size, and Toxicity in Pediatric Progressive Optic Pathway Glioma: A Retrospective Nationwide Multicentre StudyCarlien A M Bennebroek, Judith van Zwol, Giorgio L Porro, et al.
Pageof 8

Showing results (41-50 of 74) with videos related to

Sort By:
Pageof 8
Molecular Vision|December 5, 2009
A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosaMaleeha Azam, Muhammad Imran Khan, Andreas Gal, et al.
American Journal of Human Genetics|August 21, 2012
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsiaSusanne Kohl, Frauke Coppieters, Françoise Meire, et al.
Acta Ophthalmologica|November 25, 2025
Vitreoretinal complications and surgical outcomes in patients with X-linked retinoschisisJonathan Hensman, Leo C Hahn, Mary J van Schooneveld, et al.
Investigative Ophthalmology & Visual Science|January 14, 2022
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and DifferencesCharlotte C Kruijt, Libe Gradstein, Arthur A Bergen, et al.
NPJ Genomic Medicine|November 9, 2022
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPALonneke Haer-Wigman, Amber den Ouden, Maria M van Genderen, et al.
European Journal of Human Genetics : EJHG|February 3, 2018
A clinical and molecular characterisation of CRB1-associated maculopathyKamron N Khan, Anthony Robson, Omar A R Mahroo, et al.
Investigative Ophthalmology & Visual Science|December 17, 2008
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorderKarin W Littink, Maria M van Genderen, Rob W J Collin, et al.
Ophthalmology|March 26, 2017
Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up StudyMays Talib, Mary J van Schooneveld, Maria M van Genderen, et al.
Progress in Retinal and Eye Research|December 29, 2024
Syndromic retinitis pigmentosaJessica S Karuntu, Hind Almushattat, Xuan-Thanh-An Nguyen, et al.
Cancers|December 23, 2022
Impact of Bevacizumab on Visual Function, Tumor Size, and Toxicity in Pediatric Progressive Optic Pathway Glioma: A Retrospective Nationwide Multicentre StudyCarlien A M Bennebroek, Judith van Zwol, Giorgio L Porro, et al.
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