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

D Héron

Showing results (11-20 of 21) with videos related to

Pageof 3
Sort By:
Journal of Medical Genetics|October 4, 2002
Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experienceP Charron, D Héron, M Gargiulo, et al.
Orphanet Journal of Rare Diseases|June 26, 2016
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activityS Sabry, S Vuillaumier-Barrot, E Mintet, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|June 10, 2020
Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesionsP Maurice, L Guilbaud, J Garel, et al.
Human Mutation|September 23, 1998
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysisP Saugier-Veber, C Martin, N Le Meur, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 17, 2012
[Diagnostic investigations for an unexplained developmental disability]A Verloes, D Héron, T Billette de Villemeur, et al.
Journal of Medical Genetics|August 1, 2009
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) familiesM Willems, D Geneviève, G Borck, et al.
Journal of Medical Genetics|January 7, 2006
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative studyC Thauvin-Robinet, M Cossée, V Cormier-Daire, et al.
Translational Psychiatry|October 25, 2012
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHEC Nava, F Lamari, D Héron, et al.
Nature|May 30, 2014
Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmissionT Karayannis, E Au, J C Patel, 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.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Journal of Medical Genetics|October 4, 2002
Genetic testing and genetic counselling in hypertrophic cardiomyopathy: the French experienceP Charron, D Héron, M Gargiulo, et al.
Orphanet Journal of Rare Diseases|June 26, 2016
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activityS Sabry, S Vuillaumier-Barrot, E Mintet, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|June 10, 2020
Prevalence of COL4A1 and COL4A2 mutations in severe fetal multifocal hemorrhagic and/or ischemic cerebral lesionsP Maurice, L Guilbaud, J Garel, et al.
Human Mutation|September 23, 1998
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysisP Saugier-Veber, C Martin, N Le Meur, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 17, 2012
[Diagnostic investigations for an unexplained developmental disability]A Verloes, D Héron, T Billette de Villemeur, et al.
Journal of Medical Genetics|August 1, 2009
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) familiesM Willems, D Geneviève, G Borck, et al.
Journal of Medical Genetics|January 7, 2006
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative studyC Thauvin-Robinet, M Cossée, V Cormier-Daire, et al.
Translational Psychiatry|October 25, 2012
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHEC Nava, F Lamari, D Héron, et al.
Nature|May 30, 2014
Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmissionT Karayannis, E Au, J C Patel, 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.
Pageof 3