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Anne Bergougnoux

Showing results (31-40 of 43) with videos related to

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NPJ Breast Cancer|June 17, 2024
Breast cancer survivors' opinion on personalizing endocrine therapy and developing informative toolsElie Rassy, Chiara Benvenuti, Sarra Akla, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|December 24, 2021
Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forwardAurelie Hatton, Anne Bergougnoux, Katarzyna Zybert, et al.
International Journal of Molecular Sciences|December 17, 2024
Congenital Titinopathies Linked to Mutations in <i>TTN</i> Metatranscript-Only ExonsAurélien Perrin, Rocio Garcia-Uzquiano, Tanya Stojkovic, et al.
The Journal of Molecular Diagnostics : JMD|May 17, 2022
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated DomainsAurélien Perrin, Charles Van Goethem, Corinne Thèze, et al.
Brain : a Journal of Neurology|July 27, 2022
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiologyMehdi Benkirane, Dylan Da Cunha, Cecilia Marelli, 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.
Human Genomics|February 11, 2023
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretationJean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, et al.
Human Mutation|June 13, 2017
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variantsMireille Claustres, Corinne Thèze, Marie des Georges, et al.
Acta Neuropathologica Communications|July 3, 2026
Phenotype-specific muscle proteomic profiling in titinopathiesAurélien Perrin, Marie-Rocio Casenave-Camgaston, Baptiste Rabillard, et al.
Brain : a Journal of Neurology|June 17, 2024
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticityMehdi Benkirane, Marion Bonhomme, Heba Morsy, et al.
Pageof 5

Showing results (31-40 of 43) with videos related to

Sort By:
Pageof 5
NPJ Breast Cancer|June 17, 2024
Breast cancer survivors' opinion on personalizing endocrine therapy and developing informative toolsElie Rassy, Chiara Benvenuti, Sarra Akla, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|December 24, 2021
Reclassifying inconclusive diagnosis after newborn screening for cystic fibrosis. Moving forwardAurelie Hatton, Anne Bergougnoux, Katarzyna Zybert, et al.
International Journal of Molecular Sciences|December 17, 2024
Congenital Titinopathies Linked to Mutations in <i>TTN</i> Metatranscript-Only ExonsAurélien Perrin, Rocio Garcia-Uzquiano, Tanya Stojkovic, et al.
The Journal of Molecular Diagnostics : JMD|May 17, 2022
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated DomainsAurélien Perrin, Charles Van Goethem, Corinne Thèze, et al.
Brain : a Journal of Neurology|July 27, 2022
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiologyMehdi Benkirane, Dylan Da Cunha, Cecilia Marelli, 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.
Human Genomics|February 11, 2023
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretationJean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, et al.
Human Mutation|June 13, 2017
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variantsMireille Claustres, Corinne Thèze, Marie des Georges, et al.
Acta Neuropathologica Communications|July 3, 2026
Phenotype-specific muscle proteomic profiling in titinopathiesAurélien Perrin, Marie-Rocio Casenave-Camgaston, Baptiste Rabillard, et al.
Brain : a Journal of Neurology|June 17, 2024
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticityMehdi Benkirane, Marion Bonhomme, Heba Morsy, et al.
Pageof 5