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Stanislas Lyonnet

Showing results (131-140 of 260) with videos related to

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Frontiers in Genetics|February 18, 2022
Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG StudyChristine Binquet, Catherine Lejeune, Laurence Faivre, et al.
The European Respiratory Journal|December 11, 2025
Pulmonary hypertension in patients with Noonan syndromeJulien Grynblat, Mathieu Farges, Pascal Magro, et al.
Brain : a Journal of Neurology|May 26, 2011
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4Vassili Valayannopoulos, Caroline Michot, Diana Rodriguez, et al.
Human Mutation|October 6, 2011
Germline gain-of-function mutations of ALK disrupt central nervous system developmentLoïc de Pontual, Dania Kettaneh, Christopher T Gordon, et al.
Therapie|February 12, 2022
How has the future investment program stimulated research and innovation in health?Régis Bordet, Jean-Christophe Dantonel, Eric Vacaresse, et al.
Therapie|February 1, 2022
Régis Bordet, Jean-Christophe Dantonel, Eric Vacaresse, et al.
Pediatric Research|August 2, 2008
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndromeLoic De Pontual, Delphine Trochet, Sophie Caillat-Zucman, et al.
Birth Defects Research|September 7, 2021
Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutationSuzanne Chartier, Lucile Boutaud, Edouard Le Guillou, et al.
American Journal of Human Genetics|January 15, 2013
ALDH1A3 mutations cause recessive anophthalmia and microphthalmiaLucas Fares-Taie, Sylvie Gerber, Nicolas Chassaing, et al.
Human Mutation|September 11, 2008
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disordersChantal Stheneur, Gwenaëlle Collod-Béroud, Laurence Faivre, et al.
Pageof 26

Showing results (131-140 of 260) with videos related to

Sort By:
Pageof 26
Frontiers in Genetics|February 18, 2022
Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG StudyChristine Binquet, Catherine Lejeune, Laurence Faivre, et al.
The European Respiratory Journal|December 11, 2025
Pulmonary hypertension in patients with Noonan syndromeJulien Grynblat, Mathieu Farges, Pascal Magro, et al.
Brain : a Journal of Neurology|May 26, 2011
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4Vassili Valayannopoulos, Caroline Michot, Diana Rodriguez, et al.
Human Mutation|October 6, 2011
Germline gain-of-function mutations of ALK disrupt central nervous system developmentLoïc de Pontual, Dania Kettaneh, Christopher T Gordon, et al.
Therapie|February 12, 2022
How has the future investment program stimulated research and innovation in health?Régis Bordet, Jean-Christophe Dantonel, Eric Vacaresse, et al.
Therapie|February 1, 2022
Régis Bordet, Jean-Christophe Dantonel, Eric Vacaresse, et al.
Pediatric Research|August 2, 2008
Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndromeLoic De Pontual, Delphine Trochet, Sophie Caillat-Zucman, et al.
Birth Defects Research|September 7, 2021
Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutationSuzanne Chartier, Lucile Boutaud, Edouard Le Guillou, et al.
American Journal of Human Genetics|January 15, 2013
ALDH1A3 mutations cause recessive anophthalmia and microphthalmiaLucas Fares-Taie, Sylvie Gerber, Nicolas Chassaing, et al.
Human Mutation|September 11, 2008
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disordersChantal Stheneur, Gwenaëlle Collod-Béroud, Laurence Faivre, et al.
Pageof 26