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Clément Hersent

Showing results (1-10 of 4) with videos related to

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Methods in Molecular Biology (Clifton, N.J.)|August 30, 2025
Visual Inspection of Sequencing Data for Diagnosis: Practical Guide to Structural Variant Analysis Using Integrative Genomics Viewer (IGV)Benjamin Ganne, Clément Hersent, Vincent Gatinois, et al.
Journal of Neurology|January 17, 2025
AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxiaQuentin Sabbagh, Natalia Hernandez Poblete, Chloé Angelini, et al.
European Journal of Human Genetics : EJHG|June 26, 2026
Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning toolsClément Hersent, Lise Larrieu, Patricia Fergelot, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 27, 2025
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxiaMehdi Benkirane, Cecilia Marelli, Ariane Choumert, et al.
Pageof 1

Showing results (1-10 of 4) with videos related to

Sort By:
Pageof 1
Methods in Molecular Biology (Clifton, N.J.)|August 30, 2025
Visual Inspection of Sequencing Data for Diagnosis: Practical Guide to Structural Variant Analysis Using Integrative Genomics Viewer (IGV)Benjamin Ganne, Clément Hersent, Vincent Gatinois, et al.
Journal of Neurology|January 17, 2025
AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxiaQuentin Sabbagh, Natalia Hernandez Poblete, Chloé Angelini, et al.
European Journal of Human Genetics : EJHG|June 26, 2026
Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning toolsClément Hersent, Lise Larrieu, Patricia Fergelot, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 27, 2025
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxiaMehdi Benkirane, Cecilia Marelli, Ariane Choumert, et al.
Pageof 1