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

David B Goldstein

Showing results (291-300 of 338) with videos related to

Pageof 34
Sort By:
Nature Neuroscience|November 27, 2019
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock proteinSali M K Farhan, Daniel P Howrigan, Liam E Abbott, et al.
Annals of Neurology|June 10, 2019
Autism and developmental disability caused by KCNQ3 gain-of-function variantsTristan T Sands, Francesco Miceli, Gaetan Lesca, et al.
Plos Genetics|December 31, 2009
Common genetic variation and the control of HIV-1 in humansJacques Fellay, Dongliang Ge, Kevin V Shianna, et al.
Nature Neuroscience|December 21, 2019
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock proteinSali M K Farhan, Daniel P Howrigan, Liam E Abbott, et al.
The New England Journal of Medicine|January 13, 2012
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletionsMichael J Ombrello, Elaine F Remmers, Guangping Sun, et al.
American Journal of Human Genetics|January 31, 2017
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayKelly Schoch, Linyan Meng, Szabolcs Szelinger, et al.
Nature|July 18, 2012
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosisChi-Hong Wu, Claudia Fallini, Nicola Ticozzi, et al.
American Journal of Human Genetics|April 26, 2016
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and SeizuresSlavé Petrovski, Sébastien Küry, Candace T Myers, et al.
The Lancet. Neurology|October 5, 2007
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control studyGianpiero L Cavalleri, Michael E Weale, Kevin V Shianna, et al.
American Journal of Human Genetics|July 31, 2018
IRF2BPL Is Associated with Neurological PhenotypesPaul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
Pageof 34

Showing results (291-300 of 338) with videos related to

Sort By:
Pageof 34
Nature Neuroscience|November 27, 2019
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock proteinSali M K Farhan, Daniel P Howrigan, Liam E Abbott, et al.
Annals of Neurology|June 10, 2019
Autism and developmental disability caused by KCNQ3 gain-of-function variantsTristan T Sands, Francesco Miceli, Gaetan Lesca, et al.
Plos Genetics|December 31, 2009
Common genetic variation and the control of HIV-1 in humansJacques Fellay, Dongliang Ge, Kevin V Shianna, et al.
Nature Neuroscience|December 21, 2019
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock proteinSali M K Farhan, Daniel P Howrigan, Liam E Abbott, et al.
The New England Journal of Medicine|January 13, 2012
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletionsMichael J Ombrello, Elaine F Remmers, Guangping Sun, et al.
American Journal of Human Genetics|January 31, 2017
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayKelly Schoch, Linyan Meng, Szabolcs Szelinger, et al.
Nature|July 18, 2012
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosisChi-Hong Wu, Claudia Fallini, Nicola Ticozzi, et al.
American Journal of Human Genetics|April 26, 2016
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and SeizuresSlavé Petrovski, Sébastien Küry, Candace T Myers, et al.
The Lancet. Neurology|October 5, 2007
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control studyGianpiero L Cavalleri, Michael E Weale, Kevin V Shianna, et al.
American Journal of Human Genetics|July 31, 2018
IRF2BPL Is Associated with Neurological PhenotypesPaul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
Pageof 34