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

Judith Melki

Showing results (71-80 of 79) with videos related to

Pageof 8
Sort By:
You have reached the last page of results.This site can display upto 79 results.
Human Molecular Genetics|December 10, 2013
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defectsAnnie Laquérriere, Jérome Maluenda, Adrien Camus, et al.
The Journal of Clinical Investigation|September 25, 2014
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyMichaela Yuen, Sarah A Sandaradura, James J Dowling, et al.
The Journal of Clinical Investigation|February 6, 2015
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyMichaela Yuen, Sarah A Sandaradura, James J Dowling, et al.
Neurobiology of Aging|September 11, 2012
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1Kreshnik B Ahmeti, Senda Ajroud-Driss, Ammar Al-Chalabi, et al.
Nature Genetics|September 8, 2009
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosisMichael A van Es, Jan H Veldink, Christiaan G J Saris, et al.
Human Molecular Genetics|November 22, 2013
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosisIsabella Fogh, Antonia Ratti, Cinzia Gellera, et al.
Human Mutation|March 8, 2012
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathyJohann Böhm, Valérie Biancalana, Elizabeth T Dechene, et al.
Journal of Medical Genetics|April 6, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenitaAnnie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.
Brain : a Journal of Neurology|February 9, 2023
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disordersAfshin Saffari, Tracy Lau, Homa Tajsharghi, et al.
Pageof 8

Showing results (71-80 of 79) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 79 results.
Human Molecular Genetics|December 10, 2013
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defectsAnnie Laquérriere, Jérome Maluenda, Adrien Camus, et al.
The Journal of Clinical Investigation|September 25, 2014
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyMichaela Yuen, Sarah A Sandaradura, James J Dowling, et al.
The Journal of Clinical Investigation|February 6, 2015
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyMichaela Yuen, Sarah A Sandaradura, James J Dowling, et al.
Neurobiology of Aging|September 11, 2012
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1Kreshnik B Ahmeti, Senda Ajroud-Driss, Ammar Al-Chalabi, et al.
Nature Genetics|September 8, 2009
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosisMichael A van Es, Jan H Veldink, Christiaan G J Saris, et al.
Human Molecular Genetics|November 22, 2013
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosisIsabella Fogh, Antonia Ratti, Cinzia Gellera, et al.
Human Mutation|March 8, 2012
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathyJohann Böhm, Valérie Biancalana, Elizabeth T Dechene, et al.
Journal of Medical Genetics|April 6, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenitaAnnie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.
Brain : a Journal of Neurology|February 9, 2023
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disordersAfshin Saffari, Tracy Lau, Homa Tajsharghi, et al.
Pageof 8