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Mathilde Nizon

Showing results (31-40 of 120) with videos related to

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European Journal of Medical Genetics|March 7, 2024
Penetrance, variable expressivity and monogenic neurodevelopmental disordersServane de Masfrand, Benjamin Cogné, Mathilde Nizon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 4, 2019
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defectMathilde Nizon, Vincent Laugel, Kevin M Flanigan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 4, 2019
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defectMathilde Nizon, Vincent Laugel, Kevin M Flanigan, et al.
Frontiers in Cellular Neuroscience|October 13, 2025
A mutational hotspot in <i>TUBB2A</i> associated with impaired heterodimer formation and severe brain developmental disordersGabriele Di Pasquale, Jacopo Colella, Carola P Di Cataldo, et al.
Prenatal Diagnosis|May 13, 2023
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotypeToan Nguyen, Solveig Heide, Lucie Guilbaud, et al.
European Journal of Human Genetics : EJHG|November 30, 2017
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumferenceAurélien Trimouille, Nada Houcinat, Marie-Laure Vuillaume, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2025
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorderJung-Wan Mok, Laura Mackay, Maria Blazo, et al.
European Journal of Human Genetics : EJHG|June 13, 2019
Searching for secondary findings: considering actionability and preserving the right not to knowBertrand Isidor, Sophie Julia, Pascale Saugier-Veber, et al.
European Journal of Human Genetics : EJHG|November 22, 2021
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestaltFlavien Rouxel, Kevin Yauy, Guilaine Boursier, et al.
Human Mutation|January 10, 2022
Targeted next-generation sequencing in a large series of fetuses with severe renal diseasesPenelope Jordan, Guillaume Dorval, Christelle Arrondel, et al.
Pageof 12

Showing results (31-40 of 120) with videos related to

Sort By:
Pageof 12
European Journal of Medical Genetics|March 7, 2024
Penetrance, variable expressivity and monogenic neurodevelopmental disordersServane de Masfrand, Benjamin Cogné, Mathilde Nizon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 4, 2019
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defectMathilde Nizon, Vincent Laugel, Kevin M Flanigan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 4, 2019
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defectMathilde Nizon, Vincent Laugel, Kevin M Flanigan, et al.
Frontiers in Cellular Neuroscience|October 13, 2025
A mutational hotspot in <i>TUBB2A</i> associated with impaired heterodimer formation and severe brain developmental disordersGabriele Di Pasquale, Jacopo Colella, Carola P Di Cataldo, et al.
Prenatal Diagnosis|May 13, 2023
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotypeToan Nguyen, Solveig Heide, Lucie Guilbaud, et al.
European Journal of Human Genetics : EJHG|November 30, 2017
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumferenceAurélien Trimouille, Nada Houcinat, Marie-Laure Vuillaume, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2025
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorderJung-Wan Mok, Laura Mackay, Maria Blazo, et al.
European Journal of Human Genetics : EJHG|June 13, 2019
Searching for secondary findings: considering actionability and preserving the right not to knowBertrand Isidor, Sophie Julia, Pascale Saugier-Veber, et al.
European Journal of Human Genetics : EJHG|November 22, 2021
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestaltFlavien Rouxel, Kevin Yauy, Guilaine Boursier, et al.
Human Mutation|January 10, 2022
Targeted next-generation sequencing in a large series of fetuses with severe renal diseasesPenelope Jordan, Guillaume Dorval, Christelle Arrondel, et al.
Pageof 12