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Showing results (1291-1300 of 1,344) with videos related to

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Science Advances|October 24, 2025
Biosensor-driven strain engineering reveals key cellular processes for maximizing isoprenol production in <i>Pseudomonas putida</i>Javier Menasalvas, Shawn Kulakowski, Yan Chen, et al.
Clinical Genetics|July 4, 2015
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndromeS Dimassi, A Labalme, D Ville, et al.
Journal of Cachexia, Sarcopenia and Muscle|January 14, 2024
Ryanodine receptor dysfunction causes senescence and fibrosis in Duchenne dilated cardiomyopathyMonia Souidi, Jessica Resta, Haikel Dridi, et al.
European Journal of Human Genetics : EJHG|July 10, 2019
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders groupCamille Lemattre, Marion Imbert-Bouteille, Vincent Gatinois, et al.
Human Molecular Genetics|July 16, 2009
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expressionFatma Daoud, Nathalie Angeard, Bénédicte Demerre, et al.
Plos Genetics|February 14, 2009
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects femalesChristel Depienne, Delphine Bouteiller, Boris Keren, et al.
Human Mutation|October 17, 2017
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56Christelle M Durand, Laura Dhers, Christelle Tesson, et al.
The Journal of Molecular Diagnostics : JMD|May 25, 2018
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin GenesReda Zenagui, Delphine Lacourt, Henri Pegeot, et al.
Biorxiv : the Preprint Server for Biology|February 19, 2024
Prolonged airway explant culture enables study of health, disease, and viral pathogenesisRhianna E Lee-Ferris, Kenichi Okuda, Jacob R Galiger, et al.
Human Mutation|November 6, 2010
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in femalesChristel Depienne, Oriane Trouillard, Delphine Bouteiller, et al.
Pageof 135

Showing results (1291-1300 of 1,344) with videos related to

Sort By:
Pageof 135
Science Advances|October 24, 2025
Biosensor-driven strain engineering reveals key cellular processes for maximizing isoprenol production in <i>Pseudomonas putida</i>Javier Menasalvas, Shawn Kulakowski, Yan Chen, et al.
Clinical Genetics|July 4, 2015
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndromeS Dimassi, A Labalme, D Ville, et al.
Journal of Cachexia, Sarcopenia and Muscle|January 14, 2024
Ryanodine receptor dysfunction causes senescence and fibrosis in Duchenne dilated cardiomyopathyMonia Souidi, Jessica Resta, Haikel Dridi, et al.
European Journal of Human Genetics : EJHG|July 10, 2019
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders groupCamille Lemattre, Marion Imbert-Bouteille, Vincent Gatinois, et al.
Human Molecular Genetics|July 16, 2009
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expressionFatma Daoud, Nathalie Angeard, Bénédicte Demerre, et al.
Plos Genetics|February 14, 2009
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects femalesChristel Depienne, Delphine Bouteiller, Boris Keren, et al.
Human Mutation|October 17, 2017
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56Christelle M Durand, Laura Dhers, Christelle Tesson, et al.
The Journal of Molecular Diagnostics : JMD|May 25, 2018
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin GenesReda Zenagui, Delphine Lacourt, Henri Pegeot, et al.
Biorxiv : the Preprint Server for Biology|February 19, 2024
Prolonged airway explant culture enables study of health, disease, and viral pathogenesisRhianna E Lee-Ferris, Kenichi Okuda, Jacob R Galiger, et al.
Human Mutation|November 6, 2010
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in femalesChristel Depienne, Oriane Trouillard, Delphine Bouteiller, et al.
Pageof 135