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Stanislas Lyonnet

Showing results (221-230 of 260) with videos related to

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HGG Advances|December 30, 2022
Erratum: Variants in <i>PHF8</i> cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphologyAndrew K Sobering, Laura M Bryant, Dong Li, et al.
Nature Genetics|May 10, 2011
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromesAudrey Putoux, Sophie Thomas, Karlien L M Coene, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 28, 2017
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndromeMarine Legendre, Véronique Abadie, Tania Attié-Bitach, et al.
The Journal of Experimental Medicine|July 2, 2008
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cellsLudovic de Beaucoudrey, Anne Puel, Orchidée Filipe-Santos, et al.
American Journal of Human Genetics|May 19, 2021
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulationAlban Ziegler, Rémi Duclaux-Loras, Céline Revenu, et al.
Journal of Medical Genetics|January 15, 2013
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndromeChristopher T Gordon, Alice Vuillot, Sandrine Marlin, et al.
Genome Medicine|April 9, 2026
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathiesAmandine Santini, Angelo Tognon, Anne-Claire Richard, et al.
Genome Biology|February 4, 2020
The Deep Genome ProjectK C Kent Lloyd, David J Adams, Gareth Baynam, et al.
Nature Genetics|January 10, 2017
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developmentChristopher T Gordon, Shifeng Xue, Gökhan Yigit, et al.
American Journal of Human Genetics|January 12, 2021
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndromeNa Chen, Sen Zhao, Angad Jolly, et al.
Pageof 26

Showing results (221-230 of 260) with videos related to

Sort By:
Pageof 26
HGG Advances|December 30, 2022
Erratum: Variants in <i>PHF8</i> cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphologyAndrew K Sobering, Laura M Bryant, Dong Li, et al.
Nature Genetics|May 10, 2011
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromesAudrey Putoux, Sophie Thomas, Karlien L M Coene, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|November 28, 2017
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndromeMarine Legendre, Véronique Abadie, Tania Attié-Bitach, et al.
The Journal of Experimental Medicine|July 2, 2008
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cellsLudovic de Beaucoudrey, Anne Puel, Orchidée Filipe-Santos, et al.
American Journal of Human Genetics|May 19, 2021
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulationAlban Ziegler, Rémi Duclaux-Loras, Céline Revenu, et al.
Journal of Medical Genetics|January 15, 2013
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndromeChristopher T Gordon, Alice Vuillot, Sandrine Marlin, et al.
Genome Medicine|April 9, 2026
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathiesAmandine Santini, Angelo Tognon, Anne-Claire Richard, et al.
Genome Biology|February 4, 2020
The Deep Genome ProjectK C Kent Lloyd, David J Adams, Gareth Baynam, et al.
Nature Genetics|January 10, 2017
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developmentChristopher T Gordon, Shifeng Xue, Gökhan Yigit, et al.
American Journal of Human Genetics|January 12, 2021
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndromeNa Chen, Sen Zhao, Angad Jolly, et al.
Pageof 26