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Philippe Lory

Showing results (71-80 of 75) with videos related to

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Human Mutation|April 3, 2007
Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. OnlineBaljinder Singh, Arnaud Monteil, Isabelle Bidaud, et al.
Scientific Reports|November 11, 2018
Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neuronsNeus Bayó-Puxan, Ana Paula Terrasso, Sophie Creyssels, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2024
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42NDLeila Qebibo, Amaël Davakan, Mathilde Nesson-Dauphin, et al.
American Journal of Human Genetics|February 17, 2015
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delayJessica X Chong, Margaret J McMillin, Kathryn M Shively, et al.
Pageof 8

Showing results (71-80 of 75) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 75 results.
Human Mutation|April 3, 2007
Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. OnlineBaljinder Singh, Arnaud Monteil, Isabelle Bidaud, et al.
Scientific Reports|November 11, 2018
Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neuronsNeus Bayó-Puxan, Ana Paula Terrasso, Sophie Creyssels, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2024
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42NDLeila Qebibo, Amaël Davakan, Mathilde Nesson-Dauphin, et al.
American Journal of Human Genetics|February 17, 2015
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delayJessica X Chong, Margaret J McMillin, Kathryn M Shively, et al.
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