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Clinical Chemistry
|
December 16, 2016
BRCA Testing by Single-Molecule Molecular Inversion Probes
Kornelia Neveling, Arjen R Mensenkamp, Ronny Derks, et al.
Genome Medicine
|
February 14, 2024
Genome sequencing as a generic diagnostic strategy for rare disease
Gaby Schobers, Ronny Derks, Amber den Ouden, et al.
The New England Journal of Medicine
|
June 15, 2026
Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics
Tessa J J de Bitter, Bart van der Sanden, Lydia Sagath, et al.
Genome Research
|
March 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Nature Genetics
|
January 9, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
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Search research articles
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Showing results (21-30 of 27) with videos related to
Sort By:
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You have reached the last page of results.
This site can display upto 27 results.
Clinical Chemistry
|
December 16, 2016
BRCA Testing by Single-Molecule Molecular Inversion Probes
Kornelia Neveling, Arjen R Mensenkamp, Ronny Derks, et al.
Genome Medicine
|
February 14, 2024
Genome sequencing as a generic diagnostic strategy for rare disease
Gaby Schobers, Ronny Derks, Amber den Ouden, et al.
The New England Journal of Medicine
|
June 15, 2026
Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics
Tessa J J de Bitter, Bart van der Sanden, Lydia Sagath, et al.
Genome Research
|
March 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
Nature Genetics
|
January 9, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.
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