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European Journal of Human Genetics : EJHG
|
July 7, 2025
Interrupted CTG repeats in the 37-43 units size range in the 3'UTR of DMPK are common alleles
Hilde Swinkels, Maike Leferink, Maartje Pennings, et al.
Heliyon
|
January 4, 2024
Investigation of different ML approaches in classification of emotions induced by acute stress
Heba Sourkatti, Kati Pettersson, Bart van der Sanden, et al.
Molecular Therapy. Methods & Clinical Development
|
July 3, 2025
Repeat length as a key determinant for disease severity and antisense oligonucleotide activity in myotonic dystrophy type 1
Najoua El Boujnouni, Lise Ripken, Marieke Willemse, et al.
Current Protocols
|
July 5, 2024
Optical Genome Mapping for Applications in Repeat Expansion Disorders
Bart van der Sanden, Kornelia Neveling, Andy Wing Chun Pang, et al.
Nucleic Acids Research
|
June 17, 2022
DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data
Gelana Khazeeva, Karolis Sablauskas, Bart van der Sanden, 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.
American Journal of Human Genetics
|
June 4, 2026
HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
Bart van der Sanden, Christian Betz, Katharina Herzog, et al.
Genome Research
|
March 20, 2025
Optical genome mapping enables accurate testing of large repeat expansions
Bart van der Sanden, Kornelia Neveling, Syukri Shukor, et al.
Nature Genetics
|
September 9, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
Vicente A Yépez, German Demidov, Kornelia Ellwanger, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 9) with videos related to
Sort By:
Page
of 1
European Journal of Human Genetics : EJHG
|
July 7, 2025
Interrupted CTG repeats in the 37-43 units size range in the 3'UTR of DMPK are common alleles
Hilde Swinkels, Maike Leferink, Maartje Pennings, et al.
Heliyon
|
January 4, 2024
Investigation of different ML approaches in classification of emotions induced by acute stress
Heba Sourkatti, Kati Pettersson, Bart van der Sanden, et al.
Molecular Therapy. Methods & Clinical Development
|
July 3, 2025
Repeat length as a key determinant for disease severity and antisense oligonucleotide activity in myotonic dystrophy type 1
Najoua El Boujnouni, Lise Ripken, Marieke Willemse, et al.
Current Protocols
|
July 5, 2024
Optical Genome Mapping for Applications in Repeat Expansion Disorders
Bart van der Sanden, Kornelia Neveling, Andy Wing Chun Pang, et al.
Nucleic Acids Research
|
June 17, 2022
DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data
Gelana Khazeeva, Karolis Sablauskas, Bart van der Sanden, 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.
American Journal of Human Genetics
|
June 4, 2026
HiFi sequencing accurately identifies clinically relevant variants in paralogous genes
Bart van der Sanden, Christian Betz, Katharina Herzog, et al.
Genome Research
|
March 20, 2025
Optical genome mapping enables accurate testing of large repeat expansions
Bart van der Sanden, Kornelia Neveling, Syukri Shukor, et al.
Nature Genetics
|
September 9, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
Vicente A Yépez, German Demidov, Kornelia Ellwanger, et al.
Page
of 1