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

G Lesca

Showing results (31-40 of 41) with videos related to

Pageof 5
Sort By:
Neurology|August 18, 2010
Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorderL Lion-Francois, C Mignot, S Vicart, et al.
Neurology|February 26, 2003
Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 familiesG Lesca, E Eymard-Pierre, F M Santorelli, et al.
European Journal of Medical Genetics|February 14, 2024
Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT familiesM Tusseau, M Eyries, N Chatron, et al.
Clinical Genetics|July 4, 2015
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndromeS Dimassi, A Labalme, D Ville, et al.
Neuropediatrics|November 19, 2025
Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment OutcomesV Thormeyer, Z Meyer, T Polster, et al.
Clinical Genetics|April 5, 2016
Refining the phenotypical and mutational spectrum of Taybi-Linder syndromeA Putoux, A Alqahtani, L Pinson, et al.
Neurogenetics|March 7, 2008
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?M Y Frédéric, F Clot, L Cif, et al.
Clinical Epigenetics|November 6, 2019
A genome-wide DNA methylation signature for SETD1B-related syndromeI M Krzyzewska, S M Maas, P Henneman, et al.
European Journal of Neurology|June 20, 2020
Deciphering the natural history of SCA7 in childrenM G Bah, D Rodriguez, C Cazeneuve, et al.
Clinical Genetics|March 26, 2018
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French casesS Baer, A Afenjar, T Smol, et al.
Pageof 5

Showing results (31-40 of 41) with videos related to

Sort By:
Pageof 5
Neurology|August 18, 2010
Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorderL Lion-Francois, C Mignot, S Vicart, et al.
Neurology|February 26, 2003
Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 familiesG Lesca, E Eymard-Pierre, F M Santorelli, et al.
European Journal of Medical Genetics|February 14, 2024
Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT familiesM Tusseau, M Eyries, N Chatron, et al.
Clinical Genetics|July 4, 2015
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndromeS Dimassi, A Labalme, D Ville, et al.
Neuropediatrics|November 19, 2025
Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment OutcomesV Thormeyer, Z Meyer, T Polster, et al.
Clinical Genetics|April 5, 2016
Refining the phenotypical and mutational spectrum of Taybi-Linder syndromeA Putoux, A Alqahtani, L Pinson, et al.
Neurogenetics|March 7, 2008
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?M Y Frédéric, F Clot, L Cif, et al.
Clinical Epigenetics|November 6, 2019
A genome-wide DNA methylation signature for SETD1B-related syndromeI M Krzyzewska, S M Maas, P Henneman, et al.
European Journal of Neurology|June 20, 2020
Deciphering the natural history of SCA7 in childrenM G Bah, D Rodriguez, C Cazeneuve, et al.
Clinical Genetics|March 26, 2018
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French casesS Baer, A Afenjar, T Smol, et al.
Pageof 5