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Ronny Derks

Showing results (1-10 of 27) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|May 11, 2023
Detection of the ACAGG Repeat Motif in RFC1 in Two Dutch Ataxia FamiliesMilo van de Pol, Luke O'Gorman, Jordi Corominas-Galbany, et al.
NPJ Genomic Medicine|May 4, 2024
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjectsLonneke Haer-Wigman, Amber den Ouden, Ronny Derks, et al.
NPJ Genomic Medicine|April 22, 2025
Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndromeSuzanne E de Bruijn, L Ingeborgh van den Born, Ronny Derks, et al.
NPJ Genomic Medicine|March 25, 2026
Publisher Correction: Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndromeSuzanne E de Bruijn, Van den Born L Ingeborgh, Ronny Derks, et al.
European Journal of Human Genetics : EJHG|March 27, 2021
Correction: Long-read trio sequencing of individuals with unsolved intellectual disabilityMarc Pauper, Erdi Kucuk, Aaron M Wenger, et al.
European Journal of Human Genetics : EJHG|December 1, 2020
Long-read trio sequencing of individuals with unsolved intellectual disabilityMarc Pauper, Erdi Kucuk, Aaron M Wenger, et al.
Genome Medicine|January 26, 2026
Genome-wide methylation detection and episignature analysis using PacBio long-read sequencingVéronique Ivashchenko, Michelle de Groot, Ronny Derks, et al.
Genome Medicine|May 9, 2023
Comprehensive de novo mutation discovery with HiFi long-read sequencingErdi Kucuk, Bart P G H van der Sanden, Luke O'Gorman, et al.
HGG Advances|January 20, 2022
Long-read technologies identify a hidden inverted duplication in a family with choroideremiaZeinab Fadaie, Kornelia Neveling, Tuomo Mantere, et al.
Biorxiv : the Preprint Server for Biology|March 23, 2026
Distinct mechanisms of CNV formation at the human 15q13.3 locusWolfram Höps, David Porubsky, DongAhn Yoo, et al.
Pageof 3

Showing results (1-10 of 27) with videos related to

Sort By:
Pageof 3
Movement Disorders : Official Journal of the Movement Disorder Society|May 11, 2023
Detection of the ACAGG Repeat Motif in RFC1 in Two Dutch Ataxia FamiliesMilo van de Pol, Luke O'Gorman, Jordi Corominas-Galbany, et al.
NPJ Genomic Medicine|May 4, 2024
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjectsLonneke Haer-Wigman, Amber den Ouden, Ronny Derks, et al.
NPJ Genomic Medicine|April 22, 2025
Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndromeSuzanne E de Bruijn, L Ingeborgh van den Born, Ronny Derks, et al.
NPJ Genomic Medicine|March 25, 2026
Publisher Correction: Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndromeSuzanne E de Bruijn, Van den Born L Ingeborgh, Ronny Derks, et al.
European Journal of Human Genetics : EJHG|March 27, 2021
Correction: Long-read trio sequencing of individuals with unsolved intellectual disabilityMarc Pauper, Erdi Kucuk, Aaron M Wenger, et al.
European Journal of Human Genetics : EJHG|December 1, 2020
Long-read trio sequencing of individuals with unsolved intellectual disabilityMarc Pauper, Erdi Kucuk, Aaron M Wenger, et al.
Genome Medicine|January 26, 2026
Genome-wide methylation detection and episignature analysis using PacBio long-read sequencingVéronique Ivashchenko, Michelle de Groot, Ronny Derks, et al.
Genome Medicine|May 9, 2023
Comprehensive de novo mutation discovery with HiFi long-read sequencingErdi Kucuk, Bart P G H van der Sanden, Luke O'Gorman, et al.
HGG Advances|January 20, 2022
Long-read technologies identify a hidden inverted duplication in a family with choroideremiaZeinab Fadaie, Kornelia Neveling, Tuomo Mantere, et al.
Biorxiv : the Preprint Server for Biology|March 23, 2026
Distinct mechanisms of CNV formation at the human 15q13.3 locusWolfram Höps, David Porubsky, DongAhn Yoo, et al.
Pageof 3