检索结果 - Françoise Charbonnier
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A large fraction of unclassified variants of the mismatch repair genes<i>MLH1</i>and<i>MSH2</i>is associated with splicing defects 由 Isabelle Tournier, Myriam Vézain, Alexandra Martins, Françoise Charbonnier, Stéphanie Baert‐Desurmont, Sylviane Olschwang, Qing Wang, Marie Pierre Buisine, Johann Soret, Jamal Tazi, Thierry Frébourg, Mario Tosi
出版 2008Artigo -
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Assessment of Multiplex Digital Droplet RT-PCR as a Diagnostic Tool for SARS-CoV-2 Detection in Nasopharyngeal Swabs and Saliva Samples 由 Kévin Cassinari, Élodie Alessandri-Gradt, Pascal Chambon, Françoise Charbonnier, Ségolène Gracias, Ludivine Beaussire, Kévin Alexandre, Nasrin Sarafan‐Vasseur, Claude Houdayer, Manuel Etienne, François Caron, Jean‐Christophe Plantier, Thierry Frébourg
出版 2020Artigo -
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Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum 由 Dominique Campion, Cécile Dumanchin, Didier Hannequin, Bruno Dubois, Serge Belliard, Michèle Puel, Catherine Thomas-Antérion, Agnès Michon, Cosette Martin, Françoise Charbonnier, Grégory Raux, Agnès Camuzat, Christiane Penet, Valérie Mesnage, María Martínez, Françoise Clerget‐Darpoux, Alexis Brice, Thierry Frébourg
出版 1999Artigo -
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CRISPR-Barcoding for Intratumor Genetic Heterogeneity Modeling and Functional Analysis of Oncogenic Driver Mutations 由 Alexis Guernet, Sathish Kumar Mungamuri, Dorthe Cartier, Ravi Sachidanandam, Anitha D. Jayaprakash, Sahil Adriouch, Myriam Vézain, Françoise Charbonnier, Guy Rohkin, Sophie Coutant, Shen Yao, Hassan Ainani, David Alexandre, Isabelle Tournier, Olivier Boyer, Stuart A. Aaronson, Youssef Anouar, Luca Grumolato
出版 2016Artigo -
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Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation 由 Olivier Quenez, Kévin Cassinari, Sophie Coutant, François Lecoquierre, Kilan Le Guennec, Stéphane Rousseau, Anne‐Claire Richard, Stéphanie Vasseur, Emilie Bouvignies, Jacqueline Bou, Gwendoline Lienard, Sandrine Manase, Steeve Fourneaux, Nathalie Drouot, Virginie Nguyen-Viet, Myriam Vezain, Pascal Chambon, Géraldine Joly‐Helas, Nathalie Le Meur, Mathieu Castelain, Anne Boland, Jean‐François Deleuze, Isabelle Tournier, Françoise Charbonnier, Edwige Kasper, Gaëlle Bougeard, Thierry Frébourg, Pascale Saugier‐Veber, Stéphanie Baert‐Desurmont, Dominique Campion, Anne Rovelet‐Lecrux, Gaël Nicolas
出版 2020Artigo
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Biology
Genetics
Gene
Computational biology
Internal medicine
Medicine
Mutation
Bioinformatics
Disease
Exon
Genome
Multiplex
Age of onset
Alternative splicing
Alzheimer's disease
Brain tumor
CRISPR
Cas9
Comparative genomic hybridization
Computer science
Context (archaeology)
Copy-number variation
Coronavirus disease 2019 (COVID-19)
DNA barcoding
DNA mismatch repair
DNA repair
Database
Digital polymerase chain reaction
Early-onset Alzheimer's disease
Environmental health