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

Hilde Peeters

Showing results (91-100 of 99) with videos related to

Pageof 10
Sort By:
You have reached the last page of results.This site can display upto 99 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorderYoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.
Brain : a Journal of Neurology|August 8, 2020
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorderPauline E Schneeberger, Fanny Kortüm, Georg Christoph Korenke, et al.
Nature Genetics|September 15, 2014
Refining analyses of copy number variation identifies specific genes associated with developmental delayBradley P Coe, Kali Witherspoon, Jill A Rosenfeld, et al.
American Journal of Human Genetics|November 3, 2018
NFIB Haploinsufficiency Is Associated with Intellectual Disability and MacrocephalyIna Schanze, Jens Bunt, Jonathan W C Lim, et al.
Nature Genetics|February 14, 2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesHolly A F Stessman, Bo Xiong, Bradley P Coe, et al.
American Journal of Human Genetics|November 6, 2020
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of AutismHui Guo, Qiumeng Zhang, Rujia Dai, et al.
Nature Communications|October 2, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.
Nature Communications|October 22, 2020
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.
Genome Medicine|April 20, 2021
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disordersMadelyn A Gillentine, Tianyun Wang, Kendra Hoekzema, et al.
Pageof 10

Showing results (91-100 of 99) with videos related to

Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 99 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorderYoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.
Brain : a Journal of Neurology|August 8, 2020
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorderPauline E Schneeberger, Fanny Kortüm, Georg Christoph Korenke, et al.
Nature Genetics|September 15, 2014
Refining analyses of copy number variation identifies specific genes associated with developmental delayBradley P Coe, Kali Witherspoon, Jill A Rosenfeld, et al.
American Journal of Human Genetics|November 3, 2018
NFIB Haploinsufficiency Is Associated with Intellectual Disability and MacrocephalyIna Schanze, Jens Bunt, Jonathan W C Lim, et al.
Nature Genetics|February 14, 2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesHolly A F Stessman, Bo Xiong, Bradley P Coe, et al.
American Journal of Human Genetics|November 6, 2020
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of AutismHui Guo, Qiumeng Zhang, Rujia Dai, et al.
Nature Communications|October 2, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.
Nature Communications|October 22, 2020
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disordersTianyun Wang, Kendra Hoekzema, Davide Vecchio, et al.
Genome Medicine|April 20, 2021
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disordersMadelyn A Gillentine, Tianyun Wang, Kendra Hoekzema, et al.
Pageof 10