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

Ronny Derks

Showing results (11-20 of 27) with videos related to

Pageof 3
Sort By:
Human Genetics|August 19, 2021
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variantJeroen J Smits, Suzanne E de Bruijn, Cornelis P Lanting, et al.
Human Genetics|October 5, 2021
Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variantJeroen J Smits, Suzanne E de Bruijn, Cornelis P Lanting, et al.
American Journal of Human Genetics|June 4, 2026
HiFi sequencing accurately identifies clinically relevant variants in paralogous genesBart van der Sanden, Christian Betz, Katharina Herzog, et al.
NPJ Genomic Medicine|November 9, 2022
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPALonneke Haer-Wigman, Amber den Ouden, Maria M van Genderen, et al.
American Journal of Human Genetics|January 14, 2025
HiFi long-read genomes for difficult-to-detect, clinically relevant variantsWolfram Höps, Marjan M Weiss, Ronny Derks, et al.
American Journal of Human Genetics|January 24, 2012
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndromeMichael A Simpson, Charu Deshpande, Dimitra Dafou, et al.
Genome Medicine|June 16, 2022
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applicationsGaby Schobers, Jolanda H Schieving, Helger G Yntema, et al.
Human Mutation|June 19, 2019
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt diseaseMubeen Khan, Stéphanie S Cornelis, Muhammad Imran Khan, et al.
Plos Genetics|February 23, 2016
Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer SusceptibilityRicharda M de Voer, Marc-Manuel Hahn, Robbert D A Weren, et al.
European Journal of Human Genetics : EJHG|September 16, 2022
The performance of genome sequencing as a first-tier test for neurodevelopmental disordersBart P G H van der Sanden, Gaby Schobers, Jordi Corominas Galbany, et al.
Pageof 3

Showing results (11-20 of 27) with videos related to

Sort By:
Pageof 3
Human Genetics|August 19, 2021
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variantJeroen J Smits, Suzanne E de Bruijn, Cornelis P Lanting, et al.
Human Genetics|October 5, 2021
Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variantJeroen J Smits, Suzanne E de Bruijn, Cornelis P Lanting, et al.
American Journal of Human Genetics|June 4, 2026
HiFi sequencing accurately identifies clinically relevant variants in paralogous genesBart van der Sanden, Christian Betz, Katharina Herzog, et al.
NPJ Genomic Medicine|November 9, 2022
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPALonneke Haer-Wigman, Amber den Ouden, Maria M van Genderen, et al.
American Journal of Human Genetics|January 14, 2025
HiFi long-read genomes for difficult-to-detect, clinically relevant variantsWolfram Höps, Marjan M Weiss, Ronny Derks, et al.
American Journal of Human Genetics|January 24, 2012
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndromeMichael A Simpson, Charu Deshpande, Dimitra Dafou, et al.
Genome Medicine|June 16, 2022
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applicationsGaby Schobers, Jolanda H Schieving, Helger G Yntema, et al.
Human Mutation|June 19, 2019
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt diseaseMubeen Khan, Stéphanie S Cornelis, Muhammad Imran Khan, et al.
Plos Genetics|February 23, 2016
Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer SusceptibilityRicharda M de Voer, Marc-Manuel Hahn, Robbert D A Weren, et al.
European Journal of Human Genetics : EJHG|September 16, 2022
The performance of genome sequencing as a first-tier test for neurodevelopmental disordersBart P G H van der Sanden, Gaby Schobers, Jordi Corominas Galbany, et al.
Pageof 3