Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Maria M van Genderen

Showing results (61-70 of 74) with videos related to

Pageof 8
Sort By:
Scientific Reports|October 3, 2024
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophyCansu de Muijnck, Lonneke Haer-Wigman, Judith A M van Everdingen, et al.
Investigative Ophthalmology & Visual Science|August 15, 2018
The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR GeneMays Talib, Mary J van Schooneveld, Caroline Van Cauwenbergh, et al.
American Journal of Ophthalmology|July 28, 2021
CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical TrialsXuan-Thanh-An Nguyen, Mays Talib, Mary J van Schooneveld, et al.
American Journal of Human Genetics|December 3, 2013
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinismJames A Poulter, Musallam Al-Araimi, Ivan Conte, et al.
Retina (Philadelphia, Pa.)|April 18, 2020
CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up StudyXuan-Thanh-An Nguyen, Mays Talib, Caroline van Cauwenbergh, et al.
Ophthalmology|January 24, 2012
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophyAlberta A H J Thiadens, T My Lan Phan, Renate C Zekveld-Vroon, et al.
Investigative Ophthalmology & Visual Science|July 7, 2009
Genotyping microarray for CSNB-associated genesChristina Zeitz, Stephan Labs, Birgit Lorenz, et al.
Investigative Ophthalmology & Visual Science|August 27, 2024
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 ConsortiumPam A T Heutinck, L Ingeborgh van den Born, Maikel Vermeer, et al.
Ophthalmology|October 8, 2021
X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 PatientsLeo C Hahn, Mary J van Schooneveld, Nieneke L Wesseling, et al.
Ophthalmology|February 14, 2022
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter StudyHelen J Kuht, Gail D E Maconachie, Jinu Han, et al.
Pageof 8

Showing results (61-70 of 74) with videos related to

Sort By:
Pageof 8
Scientific Reports|October 3, 2024
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophyCansu de Muijnck, Lonneke Haer-Wigman, Judith A M van Everdingen, et al.
Investigative Ophthalmology & Visual Science|August 15, 2018
The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR GeneMays Talib, Mary J van Schooneveld, Caroline Van Cauwenbergh, et al.
American Journal of Ophthalmology|July 28, 2021
CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical TrialsXuan-Thanh-An Nguyen, Mays Talib, Mary J van Schooneveld, et al.
American Journal of Human Genetics|December 3, 2013
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinismJames A Poulter, Musallam Al-Araimi, Ivan Conte, et al.
Retina (Philadelphia, Pa.)|April 18, 2020
CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up StudyXuan-Thanh-An Nguyen, Mays Talib, Caroline van Cauwenbergh, et al.
Ophthalmology|January 24, 2012
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophyAlberta A H J Thiadens, T My Lan Phan, Renate C Zekveld-Vroon, et al.
Investigative Ophthalmology & Visual Science|July 7, 2009
Genotyping microarray for CSNB-associated genesChristina Zeitz, Stephan Labs, Birgit Lorenz, et al.
Investigative Ophthalmology & Visual Science|August 27, 2024
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 ConsortiumPam A T Heutinck, L Ingeborgh van den Born, Maikel Vermeer, et al.
Ophthalmology|October 8, 2021
X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 PatientsLeo C Hahn, Mary J van Schooneveld, Nieneke L Wesseling, et al.
Ophthalmology|February 14, 2022
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter StudyHelen J Kuht, Gail D E Maconachie, Jinu Han, et al.
Pageof 8