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Christophe Philippe

Showing results (61-70 of 150) with videos related to

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Clinical Genetics|January 21, 2025
The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature ReviewCindy Colson, Marine Tessarech, Elise Boucher-Brischoux, et al.
Clinical Genetics|August 22, 2024
SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?Marlène Malbos, Gabriella Vera, Harsh Sheth, et al.
Human Mutation|July 15, 2021
Variants of human CLDN9 cause mild to profound hearing lossMemoona Ramzan, Christophe Philippe, Inna A Belyantseva, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 8, 2024
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language developmentBenoit Mazel, Julian Delanne, Aurore Garde, et al.
Journal of Medical Genetics|June 4, 2021
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogeneticsQuentin Thomas, Antonio Vitobello, Frederic Tran Mau-Them, et al.
European Journal of Human Genetics : EJHG|October 28, 2021
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrumAnge-Line Bruel, Antonio Vitobello, Isabelle Thiffault, et al.
Human Molecular Genetics|December 17, 2013
Cohen syndrome is associated with major glycosylation defectsLaurence Duplomb, Sandrine Duvet, Damien Picot, et al.
Journal of Medical Genetics|November 21, 2014
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlationCyril Mignot, Laetitia Lambert, Laurent Pasquier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 20, 2018
2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseasesAnge-Line Bruel, Antonio Vitobello, Frédéric Tran Mau-Them, et al.
Clinical Genetics|April 16, 2020
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complicationsAlison Foster, Basile Chalot, Thalia Antoniadi, et al.
Pageof 15

Showing results (61-70 of 150) with videos related to

Sort By:
Pageof 15
Clinical Genetics|January 21, 2025
The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature ReviewCindy Colson, Marine Tessarech, Elise Boucher-Brischoux, et al.
Clinical Genetics|August 22, 2024
SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?Marlène Malbos, Gabriella Vera, Harsh Sheth, et al.
Human Mutation|July 15, 2021
Variants of human CLDN9 cause mild to profound hearing lossMemoona Ramzan, Christophe Philippe, Inna A Belyantseva, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 8, 2024
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language developmentBenoit Mazel, Julian Delanne, Aurore Garde, et al.
Journal of Medical Genetics|June 4, 2021
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogeneticsQuentin Thomas, Antonio Vitobello, Frederic Tran Mau-Them, et al.
European Journal of Human Genetics : EJHG|October 28, 2021
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrumAnge-Line Bruel, Antonio Vitobello, Isabelle Thiffault, et al.
Human Molecular Genetics|December 17, 2013
Cohen syndrome is associated with major glycosylation defectsLaurence Duplomb, Sandrine Duvet, Damien Picot, et al.
Journal of Medical Genetics|November 21, 2014
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlationCyril Mignot, Laetitia Lambert, Laurent Pasquier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 20, 2018
2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseasesAnge-Line Bruel, Antonio Vitobello, Frédéric Tran Mau-Them, et al.
Clinical Genetics|April 16, 2020
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complicationsAlison Foster, Basile Chalot, Thalia Antoniadi, et al.
Pageof 15