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Filip Van Den Broeck

Showing results (11-20 of 18) with videos related to

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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.
Journal of Inherited Metabolic Disease|January 6, 2025
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort StudyBerith M Balfoort, Filip Van den Broeck, Camiel J F Boon, et al.
Genome Medicine|January 6, 2024
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal diseaseAlfredo Dueñas Rey, Marta Del Pozo Valero, Manon Bouckaert, et al.
Research Square|May 19, 2025
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individualsEline Van Vooren, Filip Van den Broeck, Quinten Mahieu, et al.
Investigative Ophthalmology & Visual Science|September 23, 2025
RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected IndividualsEline Van Vooren, Filip Van Den Broeck, Quinten Mahieu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2025
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathyAnneke T Vulto-van Silfhout, Ingrid M Jazet, Suzanne Yzer, et al.
The British Journal of Ophthalmology|July 30, 2024
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre studyAustin D Igelman, Elizabeth White, Alaa Tayyib, et al.
American Journal of Human Genetics|March 13, 2025
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophyKarolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, et al.
Pageof 2

Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
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.
Journal of Inherited Metabolic Disease|January 6, 2025
Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort StudyBerith M Balfoort, Filip Van den Broeck, Camiel J F Boon, et al.
Genome Medicine|January 6, 2024
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal diseaseAlfredo Dueñas Rey, Marta Del Pozo Valero, Manon Bouckaert, et al.
Research Square|May 19, 2025
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individualsEline Van Vooren, Filip Van den Broeck, Quinten Mahieu, et al.
Investigative Ophthalmology & Visual Science|September 23, 2025
RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected IndividualsEline Van Vooren, Filip Van Den Broeck, Quinten Mahieu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 1, 2025
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathyAnneke T Vulto-van Silfhout, Ingrid M Jazet, Suzanne Yzer, et al.
The British Journal of Ophthalmology|July 30, 2024
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre studyAustin D Igelman, Elizabeth White, Alaa Tayyib, et al.
American Journal of Human Genetics|March 13, 2025
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophyKarolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, et al.
Pageof 2