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

Sascha Vermeer

Showing results (1-10 of 45) with videos related to

Pageof 5
Sort By:
Orphanet Journal of Rare Diseases|November 5, 2024
PHARC syndrome: an overviewLusine Harutyunyan, Patrick Callaerts, Sascha Vermeer
Orphanet Journal of Rare Diseases|January 8, 2025
Correction to: PHARC syndrome: an overviewLusine Harutyunyan, Patrick Callaerts, Sascha Vermeer
Movement Disorders Clinical Practice|February 26, 2021
The Characteristic Eye Movement Disorder of <i>RFC1</i>-Linked CANVASJoke Terryn, Amélie Van Eesbeeck, Sascha Vermeer, et al.
JCEM Case Reports|October 24, 2024
Hypogonadotropic Hypogonadism as First Presentation of the Severe Neuroendocrine Disorder Caused by RNF216Anne Rochtus, Willeke Asscherickx, Marijke Timmers, et al.
Movement Disorders Clinical Practice|March 7, 2024
A Case of Chorea with Slow Saccades Caused by NKX2-1 MutationJohanna Vercammen, Joke Terryn, Sien Van Daele, et al.
Ophthalmic Genetics|October 23, 2025
Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrumMiel Theunis, Stijn Van De Sompele, Julie Jacob, et al.
Clinical Dysmorphology|September 13, 2005
A unique case of PHACES syndrome confirming the assumption that PHACES syndrome and the sternal malformation-vascular dysplasia association are part of the same spectrum of malformationsSascha Vermeer, Cor G van Oostrom, Carla Boetes, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 16, 2013
A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxiaJudith van Gaalen, Sascha Vermeer, Marjon van Veluw, et al.
Pediatric Neurology|April 17, 2004
Novel mutations in three patients with LGMD2C with phenotypic differencesSascha Vermeer, Aad Verrips, Michèl A A P Willemsen, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|August 1, 2020
Diagnostic yield of testing for <i>RFC1</i> repeat expansions in patients with unexplained adult-onset cerebellar ataxiaSien Hilde Van Daele, Sascha Vermeer, Amélie Van Eesbeeck, et al.
Pageof 5

Showing results (1-10 of 45) with videos related to

Sort By:
Pageof 5
Orphanet Journal of Rare Diseases|November 5, 2024
PHARC syndrome: an overviewLusine Harutyunyan, Patrick Callaerts, Sascha Vermeer
Orphanet Journal of Rare Diseases|January 8, 2025
Correction to: PHARC syndrome: an overviewLusine Harutyunyan, Patrick Callaerts, Sascha Vermeer
Movement Disorders Clinical Practice|February 26, 2021
The Characteristic Eye Movement Disorder of <i>RFC1</i>-Linked CANVASJoke Terryn, Amélie Van Eesbeeck, Sascha Vermeer, et al.
JCEM Case Reports|October 24, 2024
Hypogonadotropic Hypogonadism as First Presentation of the Severe Neuroendocrine Disorder Caused by RNF216Anne Rochtus, Willeke Asscherickx, Marijke Timmers, et al.
Movement Disorders Clinical Practice|March 7, 2024
A Case of Chorea with Slow Saccades Caused by NKX2-1 MutationJohanna Vercammen, Joke Terryn, Sien Van Daele, et al.
Ophthalmic Genetics|October 23, 2025
Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrumMiel Theunis, Stijn Van De Sompele, Julie Jacob, et al.
Clinical Dysmorphology|September 13, 2005
A unique case of PHACES syndrome confirming the assumption that PHACES syndrome and the sternal malformation-vascular dysplasia association are part of the same spectrum of malformationsSascha Vermeer, Cor G van Oostrom, Carla Boetes, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 16, 2013
A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxiaJudith van Gaalen, Sascha Vermeer, Marjon van Veluw, et al.
Pediatric Neurology|April 17, 2004
Novel mutations in three patients with LGMD2C with phenotypic differencesSascha Vermeer, Aad Verrips, Michèl A A P Willemsen, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|August 1, 2020
Diagnostic yield of testing for <i>RFC1</i> repeat expansions in patients with unexplained adult-onset cerebellar ataxiaSien Hilde Van Daele, Sascha Vermeer, Amélie Van Eesbeeck, et al.
Pageof 5