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European Journal of Human Genetics : EJHG
|
November 8, 2020
MobiDetails: online DNA variants interpretation
David Baux, Charles Van Goethem, Olivier Ardouin, et al.
European Journal of Human Genetics : EJHG
|
December 11, 2020
Correction: MobiDetails: online DNA variants interpretation
David Baux, Charles Van Goethem, Olivier Ardouin, et al.
NAR Genomics and Bioinformatics
|
January 8, 2026
MobiCT: a UMI-based circulating tumor DNA analysis pipeline
Simon Cabello-Aguilar, Charles Van Goethem, Jean-Charles Delmas, et al.
International Journal of Molecular Sciences
|
April 28, 2023
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories
Kevin Yauy, Charles Van Goethem, Henri Pégeot, et al.
Brain : a Journal of Neurology
|
July 27, 2022
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology
Mehdi Benkirane, Dylan Da Cunha, Cecilia Marelli, et al.
European Journal of Human Genetics : EJHG
|
June 21, 2022
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective
Constance F Wells, Guilaine Boursier, Kevin Yauy, et al.
Brain : a Journal of Neurology
|
June 17, 2024
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
Mehdi Benkirane, Marion Bonhomme, Heba Morsy, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 7) with videos related to
Sort By:
Page
of 1
European Journal of Human Genetics : EJHG
|
November 8, 2020
MobiDetails: online DNA variants interpretation
David Baux, Charles Van Goethem, Olivier Ardouin, et al.
European Journal of Human Genetics : EJHG
|
December 11, 2020
Correction: MobiDetails: online DNA variants interpretation
David Baux, Charles Van Goethem, Olivier Ardouin, et al.
NAR Genomics and Bioinformatics
|
January 8, 2026
MobiCT: a UMI-based circulating tumor DNA analysis pipeline
Simon Cabello-Aguilar, Charles Van Goethem, Jean-Charles Delmas, et al.
International Journal of Molecular Sciences
|
April 28, 2023
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories
Kevin Yauy, Charles Van Goethem, Henri Pégeot, et al.
Brain : a Journal of Neurology
|
July 27, 2022
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology
Mehdi Benkirane, Dylan Da Cunha, Cecilia Marelli, et al.
European Journal of Human Genetics : EJHG
|
June 21, 2022
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective
Constance F Wells, Guilaine Boursier, Kevin Yauy, et al.
Brain : a Journal of Neurology
|
June 17, 2024
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
Mehdi Benkirane, Marion Bonhomme, Heba Morsy, et al.
Page
of 1