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Mathilde Nizon

Showing results (21-30 of 120) with videos related to

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Human Mutation|February 18, 2021
Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorderLeïla Ghesh, Thomas Besnard, Mathilde Nizon, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|January 23, 2025
Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic TechniqueJessica Kachmar, Hassan Saei, Vincent Morinière, et al.
European Journal of Human Genetics : EJHG|August 24, 2018
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle SyndromeMathilde Pacault, Marie Vincent, Thomas Besnard, et al.
Journal of Medical Genetics|April 3, 2021
Patients with <i>KCNH1</i>-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndromeMarion Aubert Mucca, Olivier Patat, Sandra Whalen, et al.
European Journal of Human Genetics : EJHG|October 27, 2016
Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathyMathilde Nizon, Benjamin Cogne, Jean-Michel Vallat, et al.
Journal of Clinical Immunology|June 29, 2020
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome PatientsFrancesco Saettini, Richard Herriot, Elisabetta Prada, et al.
Journal of Medical Genetics|July 26, 2023
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disordersKevin Riquin, Bertrand Isidor, Sandra Mercier, et al.
European Journal of Human Genetics : EJHG|April 19, 2021
Clinical delineation of SETBP1 haploinsufficiency disorderNadieh A Jansen, Ruth O Braden, Siddharth Srivastava, et al.
Neuromuscular Disorders : NMD|January 2, 2019
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective studyAgnès Viguier, Valérie Lauwers-Cances, Pascal Cintas, et al.
Clinical Genetics|October 12, 2022
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotypeMarcello Niceta, Simone Pizzi, Francesca Inzana, et al.
Pageof 12

Showing results (21-30 of 120) with videos related to

Sort By:
Pageof 12
Human Mutation|February 18, 2021
Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorderLeïla Ghesh, Thomas Besnard, Mathilde Nizon, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|January 23, 2025
Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic TechniqueJessica Kachmar, Hassan Saei, Vincent Morinière, et al.
European Journal of Human Genetics : EJHG|August 24, 2018
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle SyndromeMathilde Pacault, Marie Vincent, Thomas Besnard, et al.
Journal of Medical Genetics|April 3, 2021
Patients with <i>KCNH1</i>-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndromeMarion Aubert Mucca, Olivier Patat, Sandra Whalen, et al.
European Journal of Human Genetics : EJHG|October 27, 2016
Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathyMathilde Nizon, Benjamin Cogne, Jean-Michel Vallat, et al.
Journal of Clinical Immunology|June 29, 2020
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome PatientsFrancesco Saettini, Richard Herriot, Elisabetta Prada, et al.
Journal of Medical Genetics|July 26, 2023
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disordersKevin Riquin, Bertrand Isidor, Sandra Mercier, et al.
European Journal of Human Genetics : EJHG|April 19, 2021
Clinical delineation of SETBP1 haploinsufficiency disorderNadieh A Jansen, Ruth O Braden, Siddharth Srivastava, et al.
Neuromuscular Disorders : NMD|January 2, 2019
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective studyAgnès Viguier, Valérie Lauwers-Cances, Pascal Cintas, et al.
Clinical Genetics|October 12, 2022
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotypeMarcello Niceta, Simone Pizzi, Francesca Inzana, et al.
Pageof 12