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

Deborah Hughes

Showing results (21-30 of 40) with videos related to

Pageof 4
Sort By:
European Journal of Human Genetics : EJHG|March 20, 2019
De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genesNirmal Vadgama, Alan Pittman, Michael Simpson, et al.
Brain : a Journal of Neurology|April 22, 2017
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UKSarah Morgan, Aleksey Shatunov, William Sproviero, et al.
Neurology|July 11, 2014
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathyYo-Tsen Liu, Matilde Laurá, Joshua Hersheson, et al.
Nature Genetics|June 2, 2009
A genome-wide association study of testicular germ cell tumorElizabeth A Rapley, Clare Turnbull, Ali Amin Al Olama, et al.
Neuropathology and Applied Neurobiology|February 27, 2023
DNA methylation-based classification of glioneuronal tumours synergises with histology and radiology to refine accurate molecular stratificationThomas J Stone, Kshitij Mankad, Ai Peng Tan, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 31, 2020
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-DystoniaJoanne Ng, Elisenda Cortès-Saladelafont, Lucia Abela, et al.
Nature Genetics|May 11, 2010
Genome-wide association study identifies five new breast cancer susceptibility lociClare Turnbull, Shahana Ahmed, Jonathan Morrison, et al.
Brain : a Journal of Neurology|May 25, 2016
Genetic and phenotypic characterization of complex hereditary spastic paraplegiaEleanna Kara, Arianna Tucci, Claudia Manzoni, et al.
Neurobiology of Aging|September 6, 2016
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositisQiang Gang, Conceição Bettencourt, Pedro M Machado, et al.
Nature Communications|September 4, 2015
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizuresTommy Stödberg, Amy McTague, Arnaud J Ruiz, et al.
Pageof 4

Showing results (21-30 of 40) with videos related to

Sort By:
Pageof 4
European Journal of Human Genetics : EJHG|March 20, 2019
De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genesNirmal Vadgama, Alan Pittman, Michael Simpson, et al.
Brain : a Journal of Neurology|April 22, 2017
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UKSarah Morgan, Aleksey Shatunov, William Sproviero, et al.
Neurology|July 11, 2014
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathyYo-Tsen Liu, Matilde Laurá, Joshua Hersheson, et al.
Nature Genetics|June 2, 2009
A genome-wide association study of testicular germ cell tumorElizabeth A Rapley, Clare Turnbull, Ali Amin Al Olama, et al.
Neuropathology and Applied Neurobiology|February 27, 2023
DNA methylation-based classification of glioneuronal tumours synergises with histology and radiology to refine accurate molecular stratificationThomas J Stone, Kshitij Mankad, Ai Peng Tan, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 31, 2020
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-DystoniaJoanne Ng, Elisenda Cortès-Saladelafont, Lucia Abela, et al.
Nature Genetics|May 11, 2010
Genome-wide association study identifies five new breast cancer susceptibility lociClare Turnbull, Shahana Ahmed, Jonathan Morrison, et al.
Brain : a Journal of Neurology|May 25, 2016
Genetic and phenotypic characterization of complex hereditary spastic paraplegiaEleanna Kara, Arianna Tucci, Claudia Manzoni, et al.
Neurobiology of Aging|September 6, 2016
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositisQiang Gang, Conceição Bettencourt, Pedro M Machado, et al.
Nature Communications|September 4, 2015
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizuresTommy Stödberg, Amy McTague, Arnaud J Ruiz, et al.
Pageof 4