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Maria M van Genderen

Showing results (31-40 of 74) with videos related to

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Acta Ophthalmologica|October 19, 2020
Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentationWillemijn F E Kuper, Herman E Talsma, Mary J van Schooneveld, et al.
Molecular Vision|November 7, 2013
A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1Musallam Al-Araimi, Bishwanath Pal, James A Poulter, et al.
Progress in Retinal and Eye Research|June 21, 2022
The retinal pigmentation pathway in human albinism: Not so black and whiteReinier Bakker, Ellie L Wagstaff, Charlotte C Kruijt, et al.
Ophthalmic Genetics|May 26, 2025
Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM)Jonathan Hensman, Mary J van Schooneveld, Roselie M H Diederen, et al.
Investigative Ophthalmology & Visual Science|November 19, 2014
The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseasesRamon A C van Huet, Clasien J Oomen, Astrid S Plomp, et al.
Ophthalmology Science|September 11, 2025
Bile Acid Metabolism Changes in Patients with a <i>CRB1</i>-Associated Inherited Retinal DegenerationLude Moekotte, Joke H de Boer, Sanne Hiddingh, et al.
American Journal of Human Genetics|November 10, 2009
Mutations in TRPM1 are a common cause of complete congenital stationary night blindnessMaria M van Genderen, Mieke M C Bijveld, Yvonne B Claassen, et al.
Ophthalmology|May 30, 2013
Genotype and phenotype of 101 dutch patients with congenital stationary night blindnessMieke M C Bijveld, Ralph J Florijn, Arthur A B Bergen, et al.
Ophthalmology|May 8, 2012
A homozygous frameshift mutation in LRAT causes retinitis punctata albescensKarin W Littink, Maria M van Genderen, Mary J van Schooneveld, et al.
HGG Advances|May 1, 2026
Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunctionSofia Douzgou Houge, Cecilie Bredrup, Ragnhild Wivestad Jansson, et al.
Pageof 8

Showing results (31-40 of 74) with videos related to

Sort By:
Pageof 8
Acta Ophthalmologica|October 19, 2020
Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentationWillemijn F E Kuper, Herman E Talsma, Mary J van Schooneveld, et al.
Molecular Vision|November 7, 2013
A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1Musallam Al-Araimi, Bishwanath Pal, James A Poulter, et al.
Progress in Retinal and Eye Research|June 21, 2022
The retinal pigmentation pathway in human albinism: Not so black and whiteReinier Bakker, Ellie L Wagstaff, Charlotte C Kruijt, et al.
Ophthalmic Genetics|May 26, 2025
Pseudocolobomatous autosomal dominant atrophic maculopathy (PADAM)Jonathan Hensman, Mary J van Schooneveld, Roselie M H Diederen, et al.
Investigative Ophthalmology & Visual Science|November 19, 2014
The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseasesRamon A C van Huet, Clasien J Oomen, Astrid S Plomp, et al.
Ophthalmology Science|September 11, 2025
Bile Acid Metabolism Changes in Patients with a <i>CRB1</i>-Associated Inherited Retinal DegenerationLude Moekotte, Joke H de Boer, Sanne Hiddingh, et al.
American Journal of Human Genetics|November 10, 2009
Mutations in TRPM1 are a common cause of complete congenital stationary night blindnessMaria M van Genderen, Mieke M C Bijveld, Yvonne B Claassen, et al.
Ophthalmology|May 30, 2013
Genotype and phenotype of 101 dutch patients with congenital stationary night blindnessMieke M C Bijveld, Ralph J Florijn, Arthur A B Bergen, et al.
Ophthalmology|May 8, 2012
A homozygous frameshift mutation in LRAT causes retinitis punctata albescensKarin W Littink, Maria M van Genderen, Mary J van Schooneveld, et al.
HGG Advances|May 1, 2026
Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunctionSofia Douzgou Houge, Cecilie Bredrup, Ragnhild Wivestad Jansson, et al.
Pageof 8