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

Vincent Laugel

Showing results (41-50 of 111) with videos related to

Pageof 12
Sort By:
American Journal of Medical Genetics. Part A|March 23, 2021
Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathyLaura Mary, Elsa Nourisson, Claire Feger, et al.
Orphanet Journal of Rare Diseases|March 6, 2022
Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutationsAsma Chikhaoui, Ichraf Kraoua, Nadège Calmels, et al.
Parkinsonism & Related Disorders|February 21, 2017
SCA13 causes dominantly inherited non-progressive myoclonus ataxiaSolveig Montaut, Emmanuelle Apartis, Jean-Baptiste Chanson, et al.
Paediatric Drugs|July 7, 2025
Levetiracetam Versus Fosphenytoin Infusions as Second-Line Treatment for Pediatric Status Epilepticus: A Multicenter Study Examining Effectiveness, Tolerability, and Ease of UseArmelle Hornard, François Severac, Vincent Laugel, et al.
Genes|December 24, 2021
Identification and Characterization of a Novel Recurrent <i>ERCC6</i> Variant in Patients with a Severe Form of Cockayne Syndrome BKhouloud Zayoud, Ichraf Kraoua, Asma Chikhaoui, et al.
Frontiers in Neuroscience|April 10, 2025
Clinical and molecular overlap between nucleotide excision repair (NER) disorders and <i>DYRK1A</i> haploinsufficiency syndromeNicolas Le May, Jérémie Courraud, Imène Boujelbène, et al.
BMC Pediatrics|November 16, 2023
Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQL<sup>TM</sup>3.0DMDfv)Elisabeth Wallach, Virginie Ehlinger, Maelle Biotteau, et al.
Clinical Genetics|June 20, 2020
Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counselingSarah Baer, Cathy Obringer, Sophie Julia, et al.
Acta Neuropathologica|October 8, 2010
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathiesAnne Toussaint, Belinda Simone Cowling, Karim Hnia, et al.
American Journal of Medical Genetics. Part A|February 14, 2020
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literaturePauline Le Van Quyen, Nadège Calmels, Maryse Bonnière, et al.
Pageof 12

Showing results (41-50 of 111) with videos related to

Sort By:
Pageof 12
American Journal of Medical Genetics. Part A|March 23, 2021
Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathyLaura Mary, Elsa Nourisson, Claire Feger, et al.
Orphanet Journal of Rare Diseases|March 6, 2022
Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutationsAsma Chikhaoui, Ichraf Kraoua, Nadège Calmels, et al.
Parkinsonism & Related Disorders|February 21, 2017
SCA13 causes dominantly inherited non-progressive myoclonus ataxiaSolveig Montaut, Emmanuelle Apartis, Jean-Baptiste Chanson, et al.
Paediatric Drugs|July 7, 2025
Levetiracetam Versus Fosphenytoin Infusions as Second-Line Treatment for Pediatric Status Epilepticus: A Multicenter Study Examining Effectiveness, Tolerability, and Ease of UseArmelle Hornard, François Severac, Vincent Laugel, et al.
Genes|December 24, 2021
Identification and Characterization of a Novel Recurrent <i>ERCC6</i> Variant in Patients with a Severe Form of Cockayne Syndrome BKhouloud Zayoud, Ichraf Kraoua, Asma Chikhaoui, et al.
Frontiers in Neuroscience|April 10, 2025
Clinical and molecular overlap between nucleotide excision repair (NER) disorders and <i>DYRK1A</i> haploinsufficiency syndromeNicolas Le May, Jérémie Courraud, Imène Boujelbène, et al.
BMC Pediatrics|November 16, 2023
Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQL<sup>TM</sup>3.0DMDfv)Elisabeth Wallach, Virginie Ehlinger, Maelle Biotteau, et al.
Clinical Genetics|June 20, 2020
Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counselingSarah Baer, Cathy Obringer, Sophie Julia, et al.
Acta Neuropathologica|October 8, 2010
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathiesAnne Toussaint, Belinda Simone Cowling, Karim Hnia, et al.
American Journal of Medical Genetics. Part A|February 14, 2020
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literaturePauline Le Van Quyen, Nadège Calmels, Maryse Bonnière, et al.
Pageof 12