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Showing results (241-250 of 260) with videos related to

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Human Molecular Genetics|December 10, 2013
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defectsAnnie Laquérriere, Jérome Maluenda, Adrien Camus, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2023
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individualsQuentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, et al.
Genome Medicine|October 4, 2025
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG studySalima El Chehadeh, Solveig Heide, Chloé Quélin, et al.
Science (New York, N.Y.)|May 19, 2022
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxinAndrás N Spaan, Anna-Lena Neehus, Emmanuel Laplantine, et al.
Journal of Medical Genetics|April 12, 2020
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disabilityMartin Chevarin, Yannis Duffourd, Rebecca A Barnard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2018
Arterial tortuosity syndrome: 40 new families and literature reviewAude Beyens, Juliette Albuisson, Annekatrien Boel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 12, 2018
Correction: Arterial tortuosity syndrome: 40 new families and literature reviewAude Beyens, Juliette Albuisson, Annekatrien Boel, et al.
Journal of Medical Genetics|April 6, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenitaAnnie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.
American Journal of Human Genetics|April 28, 2021
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphismMaya Chopra, Meriel McEntagart, Jill Clayton-Smith, et al.
Molecular Genetics & Genomic Medicine|January 29, 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disordersValentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, et al.
Pageof 26

Showing results (241-250 of 260) with videos related to

Sort By:
Pageof 26
Human Molecular Genetics|December 10, 2013
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defectsAnnie Laquérriere, Jérome Maluenda, Adrien Camus, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2023
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individualsQuentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, et al.
Genome Medicine|October 4, 2025
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG studySalima El Chehadeh, Solveig Heide, Chloé Quélin, et al.
Science (New York, N.Y.)|May 19, 2022
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxinAndrás N Spaan, Anna-Lena Neehus, Emmanuel Laplantine, et al.
Journal of Medical Genetics|April 12, 2020
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disabilityMartin Chevarin, Yannis Duffourd, Rebecca A Barnard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2018
Arterial tortuosity syndrome: 40 new families and literature reviewAude Beyens, Juliette Albuisson, Annekatrien Boel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 12, 2018
Correction: Arterial tortuosity syndrome: 40 new families and literature reviewAude Beyens, Juliette Albuisson, Annekatrien Boel, et al.
Journal of Medical Genetics|April 6, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenitaAnnie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.
American Journal of Human Genetics|April 28, 2021
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphismMaya Chopra, Meriel McEntagart, Jill Clayton-Smith, et al.
Molecular Genetics & Genomic Medicine|January 29, 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disordersValentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, et al.
Pageof 26