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

F Laumonnier

Showing results (1-10 of 13) with videos related to

Pageof 2
Sort By:
Annales De Pediatrie|September 1, 1989
[Hemophilic arthropathies. Apropos of 51 cases]O Minckes, X Rialland, F Laumonnier, et al.
Molecular Neurobiology|November 8, 2013
Advances in cellular models to explore the pathophysiology of amyotrophic lateral sclerosisC Veyrat-Durebex, P Corcia, A Dangoumau, et al.
Pathologie-Biologie|February 26, 2010
[Autism, genetics and synaptic function alterations]O Perche, F Laumonnier, L Baala, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 4, 2018
Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disabilityM-L Vuillaume, B Cogné, M Jeanne, et al.
Molecular Psychiatry|June 10, 2015
GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disabilityF Bonnet-Brilhault, S Alirol, R Blanc, et al.
Molecular Psychiatry|February 25, 2009
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autismF Laumonnier, C Shoubridge, C Antar, et al.
Behavior Genetics|January 12, 2013
Xq27 FRAXA locus is a strong candidate for dyslexia: evidence from a genome-wide scan in French familiesM Huc-Chabrolle, C Charon, A Guilmatre, et al.
American Journal of Medical Genetics. Part A|November 13, 2025
Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2A Civit, L Kerbellec, D Laurenceau, et al.
Journal of Medical Genetics|October 4, 2005
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palateF Laumonnier, S Holbert, N Ronce, et al.
Molecular Psychiatry|December 21, 2011
Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disabilityL S Nguyen, L Jolly, C Shoubridge, et al.
Pageof 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
Annales De Pediatrie|September 1, 1989
[Hemophilic arthropathies. Apropos of 51 cases]O Minckes, X Rialland, F Laumonnier, et al.
Molecular Neurobiology|November 8, 2013
Advances in cellular models to explore the pathophysiology of amyotrophic lateral sclerosisC Veyrat-Durebex, P Corcia, A Dangoumau, et al.
Pathologie-Biologie|February 26, 2010
[Autism, genetics and synaptic function alterations]O Perche, F Laumonnier, L Baala, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 4, 2018
Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disabilityM-L Vuillaume, B Cogné, M Jeanne, et al.
Molecular Psychiatry|June 10, 2015
GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disabilityF Bonnet-Brilhault, S Alirol, R Blanc, et al.
Molecular Psychiatry|February 25, 2009
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autismF Laumonnier, C Shoubridge, C Antar, et al.
Behavior Genetics|January 12, 2013
Xq27 FRAXA locus is a strong candidate for dyslexia: evidence from a genome-wide scan in French familiesM Huc-Chabrolle, C Charon, A Guilmatre, et al.
American Journal of Medical Genetics. Part A|November 13, 2025
Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal-Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2A Civit, L Kerbellec, D Laurenceau, et al.
Journal of Medical Genetics|October 4, 2005
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palateF Laumonnier, S Holbert, N Ronce, et al.
Molecular Psychiatry|December 21, 2011
Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disabilityL S Nguyen, L Jolly, C Shoubridge, et al.
Pageof 2