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

James T Bennett

Showing results (61-70 of 83) with videos related to

Pageof 9
Sort By:
Journal of Medical Genetics|June 9, 2017
Loss of function in <i>ROBO1</i> is associated with tetralogy of Fallot and septal defectsPaul Kruszka, Pranoot Tanpaiboon, Katherine Neas, et al.
The Journal of Pediatrics|June 20, 2020
The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill ChildrenAmanda S Freed, Sarah V Clowes Candadai, Megan C Sikes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2018
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephalyNataliya Di Donato, Andrew E Timms, Kimberly A Aldinger, et al.
The Journal of Pediatrics|June 25, 2025
Implementation of First-Line Rapid Genome Sequencing in Non-Critical Care Pediatric WardsAlexandra C Keefe, Abbey A Scott, Lukas Kruidenier, et al.
American Journal of Medical Genetics. Part A|February 16, 2026
Implementation of First-Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care UnitsAlexandra C Keefe, Abbey A Scott, Lukas Kruidenier, et al.
NPJ Genomic Medicine|May 9, 2025
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencingAlexandra C Keefe, Dana M Jensen, Meranda M Pham, et al.
American Journal of Human Genetics|March 5, 2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous LipomatosisJames T Bennett, Tiong Yang Tan, Diana Alcantara, et al.
Human Molecular Genetics|January 10, 2020
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein traffickingRobert Behne, Julian Teinert, Miriam Wimmer, et al.
Biorxiv : the Preprint Server for Biology|June 12, 2025
A haplotype-resolved view of human gene regulationMitchell R Vollger, Elliott G Swanson, Shane J Neph, et al.
American Journal of Human Genetics|September 24, 2013
Actionable, pathogenic incidental findings in 1,000 participants' exomesMichael O Dorschner, Laura M Amendola, Emily H Turner, et al.
Pageof 9

Showing results (61-70 of 83) with videos related to

Sort By:
Pageof 9
Journal of Medical Genetics|June 9, 2017
Loss of function in <i>ROBO1</i> is associated with tetralogy of Fallot and septal defectsPaul Kruszka, Pranoot Tanpaiboon, Katherine Neas, et al.
The Journal of Pediatrics|June 20, 2020
The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill ChildrenAmanda S Freed, Sarah V Clowes Candadai, Megan C Sikes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2018
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephalyNataliya Di Donato, Andrew E Timms, Kimberly A Aldinger, et al.
The Journal of Pediatrics|June 25, 2025
Implementation of First-Line Rapid Genome Sequencing in Non-Critical Care Pediatric WardsAlexandra C Keefe, Abbey A Scott, Lukas Kruidenier, et al.
American Journal of Medical Genetics. Part A|February 16, 2026
Implementation of First-Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care UnitsAlexandra C Keefe, Abbey A Scott, Lukas Kruidenier, et al.
NPJ Genomic Medicine|May 9, 2025
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencingAlexandra C Keefe, Dana M Jensen, Meranda M Pham, et al.
American Journal of Human Genetics|March 5, 2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous LipomatosisJames T Bennett, Tiong Yang Tan, Diana Alcantara, et al.
Human Molecular Genetics|January 10, 2020
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein traffickingRobert Behne, Julian Teinert, Miriam Wimmer, et al.
Biorxiv : the Preprint Server for Biology|June 12, 2025
A haplotype-resolved view of human gene regulationMitchell R Vollger, Elliott G Swanson, Shane J Neph, et al.
American Journal of Human Genetics|September 24, 2013
Actionable, pathogenic incidental findings in 1,000 participants' exomesMichael O Dorschner, Laura M Amendola, Emily H Turner, et al.
Pageof 9