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

R Murdock

Showing results (91-100 of 123) with videos related to

Pageof 13
Sort By:
American Journal of Medical Genetics. Part A|February 23, 2022
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literatureChristina L Magyar, David R Murdock, Lindsay C Burrage, et al.
Human Mutation|March 1, 2021
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndromeMichael M Khayat, He Li, Varuna Chander, et al.
The Journal of Clinical Investigation|October 1, 2020
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testingDavid R Murdock, Hongzheng Dai, Lindsay C Burrage, et al.
The Journal of Biological Chemistry|January 11, 2003
Molecular identification of high and low affinity receptors for nicotinic acidAlan Wise, Steven M Foord, Neil J Fraser, et al.
Brain Research|April 17, 2007
Evaluation of the mGlu8 receptor as a putative therapeutic target in schizophreniaMelanie J Robbins, Kathryn R Starr, Andy Honey, et al.
American Journal of Human Genetics|April 25, 2020
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic EncephalopathyHyung-Lok Chung, Xiao Mao, Hua Wang, et al.
Molecular and Cellular Neurosciences|November 21, 2000
ASP1 (BACE2) cleaves the amyloid precursor protein at the beta-secretase siteI Hussain, D J Powell, D R Howlett, et al.
Biochemical and Biophysical Research Communications|July 13, 2000
Identification of an EDG7 variant, HOFNH30, a G-protein-coupled receptor for lysophosphatidic acidL R Fitzgerald, G M Dytko, H M Sarau, et al.
American Journal of Medical Genetics. Part A|September 25, 2023
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalitiesScott K Ward, Alexandrea Wadley, Chun-Hui Anne Tsai, et al.
The Journal of Biological Chemistry|May 16, 2000
Neuromedin U is a potent agonist at the orphan G protein-coupled receptor FM3P G Szekeres, A I Muir, L D Spinage, et al.
Pageof 13

Showing results (91-100 of 123) with videos related to

Sort By:
Pageof 13
American Journal of Medical Genetics. Part A|February 23, 2022
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literatureChristina L Magyar, David R Murdock, Lindsay C Burrage, et al.
Human Mutation|March 1, 2021
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndromeMichael M Khayat, He Li, Varuna Chander, et al.
The Journal of Clinical Investigation|October 1, 2020
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testingDavid R Murdock, Hongzheng Dai, Lindsay C Burrage, et al.
The Journal of Biological Chemistry|January 11, 2003
Molecular identification of high and low affinity receptors for nicotinic acidAlan Wise, Steven M Foord, Neil J Fraser, et al.
Brain Research|April 17, 2007
Evaluation of the mGlu8 receptor as a putative therapeutic target in schizophreniaMelanie J Robbins, Kathryn R Starr, Andy Honey, et al.
American Journal of Human Genetics|April 25, 2020
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic EncephalopathyHyung-Lok Chung, Xiao Mao, Hua Wang, et al.
Molecular and Cellular Neurosciences|November 21, 2000
ASP1 (BACE2) cleaves the amyloid precursor protein at the beta-secretase siteI Hussain, D J Powell, D R Howlett, et al.
Biochemical and Biophysical Research Communications|July 13, 2000
Identification of an EDG7 variant, HOFNH30, a G-protein-coupled receptor for lysophosphatidic acidL R Fitzgerald, G M Dytko, H M Sarau, et al.
American Journal of Medical Genetics. Part A|September 25, 2023
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalitiesScott K Ward, Alexandrea Wadley, Chun-Hui Anne Tsai, et al.
The Journal of Biological Chemistry|May 16, 2000
Neuromedin U is a potent agonist at the orphan G protein-coupled receptor FM3P G Szekeres, A I Muir, L D Spinage, et al.
Pageof 13