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Methods in Molecular Biology (Clifton, N.J.)
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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 ataxia
Quentin 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 tools
Clément 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 ataxia
Mehdi Benkirane, Cecilia Marelli, Ariane Choumert, et al.
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of 1
Search research articles
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Showing results (1-10 of 4) with videos related to
Sort By:
Page
of 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 ataxia
Quentin 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 tools
Clément 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 ataxia
Mehdi Benkirane, Cecilia Marelli, Ariane Choumert, et al.
Page
of 1