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

Toutain

Showing results (751-760 of 885) with videos related to

Pageof 89
Sort By:
European Journal of Human Genetics : EJHG|March 17, 2005
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndromeDamien Sanlaville, David Genevieve, Céline Bernardin, et al.
European Journal of Human Genetics : EJHG|January 10, 2013
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric ageSandra Mercier, Annick Toutain, Aurélie Toussaint, et al.
Journal of the Neurological Sciences|October 22, 2019
Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variantsJ Lerat, C Magdelaine, A Lunati, et al.
Prenatal Diagnosis|August 14, 2014
Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlationsCéline Dupont, Francesca Romana Grati, Kwong Wai Choy, et al.
European Journal of Medical Genetics|November 3, 2009
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French seriesSylvie Jaillard, Séverine Drunat, Claude Bendavid, et al.
Orphanet Journal of Rare Diseases|June 10, 2025
Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosisAurélien Palmyre, Fairouz Koraichi, Flavie Ader, et al.
Human Mutation|April 14, 2025
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, <i>ATP9A</i>, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual DisabilityAmélie Cordovado, Yvan Hérenger, Coline Cormier, et al.
Molecular Syndromology|December 23, 2011
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent PolydactylyE Schaefer, A Zaloszyc, J Lauer, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 18, 2009
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutationsG Solé, I Coupry, C Rooryck, et al.
Brain : a Journal of Neurology|February 5, 2026
Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexityCharlotte Tardy, Jean Philippe Trani, Victor Murcia Pienkowski, et al.
Pageof 89

Showing results (751-760 of 885) with videos related to

Sort By:
Pageof 89
European Journal of Human Genetics : EJHG|March 17, 2005
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndromeDamien Sanlaville, David Genevieve, Céline Bernardin, et al.
European Journal of Human Genetics : EJHG|January 10, 2013
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric ageSandra Mercier, Annick Toutain, Aurélie Toussaint, et al.
Journal of the Neurological Sciences|October 22, 2019
Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variantsJ Lerat, C Magdelaine, A Lunati, et al.
Prenatal Diagnosis|August 14, 2014
Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlationsCéline Dupont, Francesca Romana Grati, Kwong Wai Choy, et al.
European Journal of Medical Genetics|November 3, 2009
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French seriesSylvie Jaillard, Séverine Drunat, Claude Bendavid, et al.
Orphanet Journal of Rare Diseases|June 10, 2025
Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosisAurélien Palmyre, Fairouz Koraichi, Flavie Ader, et al.
Human Mutation|April 14, 2025
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, <i>ATP9A</i>, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual DisabilityAmélie Cordovado, Yvan Hérenger, Coline Cormier, et al.
Molecular Syndromology|December 23, 2011
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent PolydactylyE Schaefer, A Zaloszyc, J Lauer, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 18, 2009
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutationsG Solé, I Coupry, C Rooryck, et al.
Brain : a Journal of Neurology|February 5, 2026
Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexityCharlotte Tardy, Jean Philippe Trani, Victor Murcia Pienkowski, et al.
Pageof 89