Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Stanislas Lyonnet

Showing results (171-180 of 260) with videos related to

Pageof 26
Sort By:
Journal of Clinical Immunology|June 24, 2020
Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down SyndromeXiao-Fei Kong, Lisa Worley, Darawan Rinchai, et al.
American Journal of Human Genetics|August 14, 2012
TCTN3 mutations cause Mohr-Majewski syndromeSophie Thomas, Marine Legendre, Sophie Saunier, et al.
European Journal of Medical Genetics|August 12, 2020
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature reviewOriane Mercati, Marie-Thérèse Abi Warde, Geneviève Lina-Granade, et al.
Brain : a Journal of Neurology|June 8, 2018
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel geneJean Chemin, Karine Siquier-Pernet, Michaël Nicouleau, et al.
The Journal of Clinical Investigation|August 18, 2015
RAP1-mediated MEK/ERK pathway defects in Kabuki syndromeNina Bögershausen, I-Chun Tsai, Esther Pohl, et al.
American Journal of Human Genetics|August 16, 2016
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in InfancyAnne Guimier, Christopher T Gordon, François Godard, et al.
Human Mutation|June 25, 2019
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutationsEnzo Cohen, Sabrina Belkacem, Soumeya Fedala, et al.
American Journal of Human Genetics|April 4, 2015
Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liabilityQian Jiang, Stacey Arnold, Tiffany Heanue, et al.
The Journal of Clinical Endocrinology and Metabolism|January 9, 2025
Digenic Inheritance Mode in Congenital Hypothyroidism due to Thyroid Dysgenesis: HYPOTYGEN translational cohort studyAthanasia Stoupa, Dulanjalee Kariyawasam, Fabienne Jabot-Hanin, et al.
Human Mutation|May 28, 2011
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunctionCyril Goizet, Christel Depienne, Giovanni Benard, et al.
Pageof 26

Showing results (171-180 of 260) with videos related to

Sort By:
Pageof 26
Journal of Clinical Immunology|June 24, 2020
Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down SyndromeXiao-Fei Kong, Lisa Worley, Darawan Rinchai, et al.
American Journal of Human Genetics|August 14, 2012
TCTN3 mutations cause Mohr-Majewski syndromeSophie Thomas, Marine Legendre, Sophie Saunier, et al.
European Journal of Medical Genetics|August 12, 2020
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature reviewOriane Mercati, Marie-Thérèse Abi Warde, Geneviève Lina-Granade, et al.
Brain : a Journal of Neurology|June 8, 2018
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel geneJean Chemin, Karine Siquier-Pernet, Michaël Nicouleau, et al.
The Journal of Clinical Investigation|August 18, 2015
RAP1-mediated MEK/ERK pathway defects in Kabuki syndromeNina Bögershausen, I-Chun Tsai, Esther Pohl, et al.
American Journal of Human Genetics|August 16, 2016
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in InfancyAnne Guimier, Christopher T Gordon, François Godard, et al.
Human Mutation|June 25, 2019
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutationsEnzo Cohen, Sabrina Belkacem, Soumeya Fedala, et al.
American Journal of Human Genetics|April 4, 2015
Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liabilityQian Jiang, Stacey Arnold, Tiffany Heanue, et al.
The Journal of Clinical Endocrinology and Metabolism|January 9, 2025
Digenic Inheritance Mode in Congenital Hypothyroidism due to Thyroid Dysgenesis: HYPOTYGEN translational cohort studyAthanasia Stoupa, Dulanjalee Kariyawasam, Fabienne Jabot-Hanin, et al.
Human Mutation|May 28, 2011
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunctionCyril Goizet, Christel Depienne, Giovanni Benard, et al.
Pageof 26