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

Hope Northrup

Showing results (141-150 of 157) with videos related to

Pageof 16
Sort By:
Pediatric Neurology|March 29, 2026
Early Vigabatrin Treatment Before Seizure Onset Decreased Interictal Epileptiform Discharges Over the Duration of the PREVeNT StudyTarrant O McPherson, E Martina Bebin, Laura S Farach, et al.
Pediatric Neurology|August 16, 2021
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management RecommendationsHope Northrup, Mary E Aronow, E Martina Bebin, et al.
American Journal on Intellectual and Developmental Disabilities|August 26, 2025
Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial EndpointsLatha Valluripalli Soorya, Camille W Brune, Cristan A Farmer, et al.
Human Molecular Genetics|May 27, 2025
KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndromeAmber S E van Oirsouw, Michael A Hadders, Martijn Koetsier, et al.
Cell|September 20, 2011
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangementsPengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 familiesMichael D Fountain, Emmelien Aten, Megan T Cho, et al.
American Journal of Human Genetics|January 26, 2016
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 MutationsSeema R Lalani, Pengfei Liu, Jill A Rosenfeld, et al.
Human Molecular Genetics|January 20, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrumEunhye Lee, Seungmin Sim, Hee-Jung Choi, et al.
Genome Medicine|September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variantsTomasz Gambin, Bo Yuan, Weimin Bi, et al.
HGG Advances|January 20, 2022
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variabilityChaofan Zhang, Angad Jolly, Brian J Shayota, et al.
Pageof 16

Showing results (141-150 of 157) with videos related to

Sort By:
Pageof 16
Pediatric Neurology|March 29, 2026
Early Vigabatrin Treatment Before Seizure Onset Decreased Interictal Epileptiform Discharges Over the Duration of the PREVeNT StudyTarrant O McPherson, E Martina Bebin, Laura S Farach, et al.
Pediatric Neurology|August 16, 2021
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management RecommendationsHope Northrup, Mary E Aronow, E Martina Bebin, et al.
American Journal on Intellectual and Developmental Disabilities|August 26, 2025
Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial EndpointsLatha Valluripalli Soorya, Camille W Brune, Cristan A Farmer, et al.
Human Molecular Genetics|May 27, 2025
KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndromeAmber S E van Oirsouw, Michael A Hadders, Martijn Koetsier, et al.
Cell|September 20, 2011
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangementsPengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 familiesMichael D Fountain, Emmelien Aten, Megan T Cho, et al.
American Journal of Human Genetics|January 26, 2016
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 MutationsSeema R Lalani, Pengfei Liu, Jill A Rosenfeld, et al.
Human Molecular Genetics|January 20, 2026
SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrumEunhye Lee, Seungmin Sim, Hee-Jung Choi, et al.
Genome Medicine|September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variantsTomasz Gambin, Bo Yuan, Weimin Bi, et al.
HGG Advances|January 20, 2022
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variabilityChaofan Zhang, Angad Jolly, Brian J Shayota, et al.
Pageof 16