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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 Families
Milo 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 subjects
Lonneke 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 syndrome
Suzanne 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 syndrome
Suzanne 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 disability
Marc 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 disability
Marc Pauper, Erdi Kucuk, Aaron M Wenger, et al.
Genome Medicine
|
January 26, 2026
Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing
Véronique Ivashchenko, Michelle de Groot, Ronny Derks, et al.
Genome Medicine
|
May 9, 2023
Comprehensive de novo mutation discovery with HiFi long-read sequencing
Erdi 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 choroideremia
Zeinab 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 locus
Wolfram Höps, David Porubsky, DongAhn Yoo, et al.
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of 3
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Showing results (1-10 of 27) with videos related to
Sort By:
Page
of 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 Families
Milo 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 subjects
Lonneke 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 syndrome
Suzanne 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 syndrome
Suzanne 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 disability
Marc 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 disability
Marc Pauper, Erdi Kucuk, Aaron M Wenger, et al.
Genome Medicine
|
January 26, 2026
Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing
Véronique Ivashchenko, Michelle de Groot, Ronny Derks, et al.
Genome Medicine
|
May 9, 2023
Comprehensive de novo mutation discovery with HiFi long-read sequencing
Erdi 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 choroideremia
Zeinab 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 locus
Wolfram Höps, David Porubsky, DongAhn Yoo, et al.
Page
of 3