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

D Farwell

Showing results (31-40 of 79) with videos related to

Pageof 8
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
Impact of laboratory-driven proactive reanalysis: Reclassification to positive in 5% of initially negative or uncertain exome sequencing casesMeghan C Towne, Jennifer Huang, Sheila Saliganan, et al.
Human Mutation|February 10, 2022
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5-year experience with GeneMatcherMeghan C Towne, Mari Rossi, Bess Wayburn, et al.
JIMD Reports|March 26, 2014
Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 GenesKelly D Farwell Gonzalez, Xiang Li, Hsiao-Mei Lu, et al.
European Radiology|February 15, 2024
Artificial intelligence in immunotherapy PET/SPECT imagingJeremy P McGale, Delphine L Chen, Stefano Trebeschi, et al.
Clinical Nuclear Medicine|December 4, 2023
68 Ga-DOTATATE PET to Characterize Lesions in the NeuroaxisKatherine Hartmann, Jennifer A Gillman, Jillian W Lazor, et al.
Journal of Genetic Counseling|December 6, 2013
Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosisStephanie K Gandomi, K D Farwell Gonzalez, M Parra, et al.
Plos One|February 3, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panelsHolly LaDuca, Kelly D Farwell, Huy Vuong, et al.
Mutation Research|February 13, 2001
Mutation frequency is reduced in the cerebellum of Big Blue mice overexpressing a human wild type SOD1 geneM Kunishige, K A Hill, A M Riemer, et al.
JCI Insight|April 22, 2021
In vivo visualization of PARP inhibitor pharmacodynamicsElizabeth S McDonald, Austin R Pantel, Payal D Shah, et al.
Oncotarget|September 23, 2016
Early detection of pemetrexed-induced inhibition of thymidylate synthase in non-small cell lung cancer with FLT-PET imagingXiao Chen, Yizeng Yang, Ian Berger, et al.
Pageof 8

Showing results (31-40 of 79) with videos related to

Sort By:
Pageof 8
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
Impact of laboratory-driven proactive reanalysis: Reclassification to positive in 5% of initially negative or uncertain exome sequencing casesMeghan C Towne, Jennifer Huang, Sheila Saliganan, et al.
Human Mutation|February 10, 2022
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5-year experience with GeneMatcherMeghan C Towne, Mari Rossi, Bess Wayburn, et al.
JIMD Reports|March 26, 2014
Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 GenesKelly D Farwell Gonzalez, Xiang Li, Hsiao-Mei Lu, et al.
European Radiology|February 15, 2024
Artificial intelligence in immunotherapy PET/SPECT imagingJeremy P McGale, Delphine L Chen, Stefano Trebeschi, et al.
Clinical Nuclear Medicine|December 4, 2023
68 Ga-DOTATATE PET to Characterize Lesions in the NeuroaxisKatherine Hartmann, Jennifer A Gillman, Jillian W Lazor, et al.
Journal of Genetic Counseling|December 6, 2013
Diagnostic exome sequencing identifies two novel IQSEC2 mutations associated with X-linked intellectual disability with seizures: implications for genetic counseling and clinical diagnosisStephanie K Gandomi, K D Farwell Gonzalez, M Parra, et al.
Plos One|February 3, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panelsHolly LaDuca, Kelly D Farwell, Huy Vuong, et al.
Mutation Research|February 13, 2001
Mutation frequency is reduced in the cerebellum of Big Blue mice overexpressing a human wild type SOD1 geneM Kunishige, K A Hill, A M Riemer, et al.
JCI Insight|April 22, 2021
In vivo visualization of PARP inhibitor pharmacodynamicsElizabeth S McDonald, Austin R Pantel, Payal D Shah, et al.
Oncotarget|September 23, 2016
Early detection of pemetrexed-induced inhibition of thymidylate synthase in non-small cell lung cancer with FLT-PET imagingXiao Chen, Yizeng Yang, Ian Berger, et al.
Pageof 8