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

Anne-Sophie Jourdain

Showing results (1-10 of 18) with videos related to

Pageof 2
Sort By:
Journal of Assisted Reproduction and Genetics|May 22, 2024
Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagellaAnne-Laure Barbotin, Angèle Boursier, Anne-Sophie Jourdain, et al.
European Journal of Human Genetics : EJHG|March 19, 2015
The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosisFlorence Petit, Anne-Sophie Jourdain, Muriel Holder-Espinasse, et al.
American Journal of Medical Genetics. Part A|May 4, 2019
WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literaturePerrine Brunelle, Anne-Sophie Jourdain, Fabienne Escande, et al.
European Journal of Human Genetics : EJHG|April 23, 2015
Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneityJamal Ghoumid, Florence Petit, Muriel Holder-Espinasse, et al.
Human Genomics|March 14, 2026
Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1Pauline Planté-Bordeneuve, Anne-Sophie Jourdain, Caroline Thuillier, et al.
The Journal of Molecular Diagnostics : JMD|February 8, 2019
Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation MethodsLucie Coppin, Pascal Plouvier, Michel Crépin, et al.
European Journal of Human Genetics : EJHG|December 16, 2018
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variantsClémence Vanlerberghe, Anne-Sophie Jourdain, Jamal Ghoumid, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2024
Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndromeClémence Vanlerberghe, Anne Sophie Jourdain, Frédéric Frenois, et al.
European Journal of Human Genetics : EJHG|March 3, 2026
Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-upPerrine Brunelle, Anne-Sophie Jourdain, Fabienne Escande, et al.
Frontiers in Genetics|February 13, 2024
Recurrent "outsider" intronic variation in the <i>SLC5A</i>6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from MaghrebLamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, et al.
Pageof 2

Showing results (1-10 of 18) with videos related to

Sort By:
Pageof 2
Journal of Assisted Reproduction and Genetics|May 22, 2024
Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagellaAnne-Laure Barbotin, Angèle Boursier, Anne-Sophie Jourdain, et al.
European Journal of Human Genetics : EJHG|March 19, 2015
The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosisFlorence Petit, Anne-Sophie Jourdain, Muriel Holder-Espinasse, et al.
American Journal of Medical Genetics. Part A|May 4, 2019
WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literaturePerrine Brunelle, Anne-Sophie Jourdain, Fabienne Escande, et al.
European Journal of Human Genetics : EJHG|April 23, 2015
Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneityJamal Ghoumid, Florence Petit, Muriel Holder-Espinasse, et al.
Human Genomics|March 14, 2026
Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1Pauline Planté-Bordeneuve, Anne-Sophie Jourdain, Caroline Thuillier, et al.
The Journal of Molecular Diagnostics : JMD|February 8, 2019
Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation MethodsLucie Coppin, Pascal Plouvier, Michel Crépin, et al.
European Journal of Human Genetics : EJHG|December 16, 2018
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variantsClémence Vanlerberghe, Anne-Sophie Jourdain, Jamal Ghoumid, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2024
Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndromeClémence Vanlerberghe, Anne Sophie Jourdain, Frédéric Frenois, et al.
European Journal of Human Genetics : EJHG|March 3, 2026
Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-upPerrine Brunelle, Anne-Sophie Jourdain, Fabienne Escande, et al.
Frontiers in Genetics|February 13, 2024
Recurrent "outsider" intronic variation in the <i>SLC5A</i>6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from MaghrebLamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, et al.
Pageof 2