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

Elke de Boer

Showing results (21-30 of 30) with videos related to

Pageof 3
Sort By:
You have reached the last page of results.This site can display upto 30 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 2, 2023
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded proteinElke de Boer, Charlotte W Ockeloen, Rosalie A Kampen, et al.
Nature Genetics|June 29, 2023
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresisAlan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb, et al.
American Journal of Human Genetics|June 20, 2020
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental DelayLisenka E L M Vissers, Sreehari Kalvakuri, Elke de Boer, et al.
American Journal of Medical Genetics. Part A|October 24, 2020
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndromeDavid A Dyment, Anne O'Donnell-Luria, Pankaj B Agrawal, et al.
American Journal of Human Genetics|July 16, 2024
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndromeDmitrijs Rots, Arianne Bouman, Ayumi Yamada, et al.
The Journal of Clinical Investigation|September 18, 2025
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasiaAymeric Masson, Julien Paccaud, Martina Orefice, et al.
American Journal of Human Genetics|January 29, 2021
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunctionJoery den Hoed, Elke de Boer, Norine Voisin, et al.
Nature Medicine|June 19, 2025
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnosesSteven Laurie, Wouter Steyaert, Elke de Boer, et al.
Nature Medicine|January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnosesSteven Laurie, Wouter Steyaert, Elke de Boer, et al.
American Journal of Human Genetics|February 17, 2021
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in femalesFrancesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, et al.
Pageof 3

Showing results (21-30 of 30) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 30 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 2, 2023
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded proteinElke de Boer, Charlotte W Ockeloen, Rosalie A Kampen, et al.
Nature Genetics|June 29, 2023
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresisAlan P Tenney, Silvio Alessandro Di Gioia, Bryn D Webb, et al.
American Journal of Human Genetics|June 20, 2020
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental DelayLisenka E L M Vissers, Sreehari Kalvakuri, Elke de Boer, et al.
American Journal of Medical Genetics. Part A|October 24, 2020
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndromeDavid A Dyment, Anne O'Donnell-Luria, Pankaj B Agrawal, et al.
American Journal of Human Genetics|July 16, 2024
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndromeDmitrijs Rots, Arianne Bouman, Ayumi Yamada, et al.
The Journal of Clinical Investigation|September 18, 2025
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasiaAymeric Masson, Julien Paccaud, Martina Orefice, et al.
American Journal of Human Genetics|January 29, 2021
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunctionJoery den Hoed, Elke de Boer, Norine Voisin, et al.
Nature Medicine|June 19, 2025
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnosesSteven Laurie, Wouter Steyaert, Elke de Boer, et al.
Nature Medicine|January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnosesSteven Laurie, Wouter Steyaert, Elke de Boer, et al.
American Journal of Human Genetics|February 17, 2021
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in femalesFrancesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, et al.
Pageof 3