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 Mooney

Showing results (331-340 of 387) with videos related to

Pageof 39
Sort By:
Nature Communications|November 21, 2020
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2Vikas Pejaver, Jorge Urresti, Jose Lugo-Martinez, et al.
Thescientificworldjournal|December 3, 2013
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studiesSerena Catarzi, Anna Caciotti, Janita Thusberg, et al.
Biorxiv : the Preprint Server for Biology|February 27, 2026
Gene- and domain-aware calibration increases the clinical utility of variant effect predictorsYile Chen, Shawn Fayer, Shantanu Jain, et al.
Biomedicines|October 27, 2022
Postnatal Conditional Deletion of <i>Bcl11b</i> in Striatal Projection Neurons Mimics the Transcriptional Signature of Huntington's DiseaseSicheng Song, Jordi Creus Muncunill, Carlos Galicia Aguirre, et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|September 17, 2013
Case-finding for coeliac disease in secondary care: a prospective multicentre UK studyPeter D Mooney, John S Leeds, Nafan Libzo, et al.
Scientific Reports|December 14, 2016
A genome-wide screen of bacterial mutants that enhance dauer formation in C. elegansAmit Khanna, Jitendra Kumar, Misha A Vargas, et al.
Journal of the American Medical Informatics Association : JAMIA|October 9, 2019
Leaf: an open-source, model-agnostic, data-driven web application for cohort discovery and translational biomedical researchNicholas J Dobbins, Clifford H Spital, Robert A Black, et al.
BBA Clinical|April 7, 2016
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutationRodolfo Tonin, Anna Caciotti, Silvia Funghini, et al.
American Journal of Human Genetics|November 22, 2022
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteriaVikas Pejaver, Alicia B Byrne, Bing-Jian Feng, et al.
Psychiatry|November 1, 2017
Technology Use, Preferences, and Capacity in Injured Patients at Risk for Posttraumatic Stress DisorderCory M Kelly, Erik G Van Eaton, Joan E Russo, et al.
Pageof 39

Showing results (331-340 of 387) with videos related to

Sort By:
Pageof 39
Nature Communications|November 21, 2020
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2Vikas Pejaver, Jorge Urresti, Jose Lugo-Martinez, et al.
Thescientificworldjournal|December 3, 2013
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studiesSerena Catarzi, Anna Caciotti, Janita Thusberg, et al.
Biorxiv : the Preprint Server for Biology|February 27, 2026
Gene- and domain-aware calibration increases the clinical utility of variant effect predictorsYile Chen, Shawn Fayer, Shantanu Jain, et al.
Biomedicines|October 27, 2022
Postnatal Conditional Deletion of <i>Bcl11b</i> in Striatal Projection Neurons Mimics the Transcriptional Signature of Huntington's DiseaseSicheng Song, Jordi Creus Muncunill, Carlos Galicia Aguirre, et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|September 17, 2013
Case-finding for coeliac disease in secondary care: a prospective multicentre UK studyPeter D Mooney, John S Leeds, Nafan Libzo, et al.
Scientific Reports|December 14, 2016
A genome-wide screen of bacterial mutants that enhance dauer formation in C. elegansAmit Khanna, Jitendra Kumar, Misha A Vargas, et al.
Journal of the American Medical Informatics Association : JAMIA|October 9, 2019
Leaf: an open-source, model-agnostic, data-driven web application for cohort discovery and translational biomedical researchNicholas J Dobbins, Clifford H Spital, Robert A Black, et al.
BBA Clinical|April 7, 2016
Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutationRodolfo Tonin, Anna Caciotti, Silvia Funghini, et al.
American Journal of Human Genetics|November 22, 2022
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteriaVikas Pejaver, Alicia B Byrne, Bing-Jian Feng, et al.
Psychiatry|November 1, 2017
Technology Use, Preferences, and Capacity in Injured Patients at Risk for Posttraumatic Stress DisorderCory M Kelly, Erik G Van Eaton, Joan E Russo, et al.
Pageof 39