Výsledky vyhledávání - Mathilde Filser

Low incidence of <i>EPOR</i> mutations in idiopathic erythrocytosis Autor Mathilde Filser, Bernard Aral, Fabrice Airaud, Aurélie Chauveau, Aisha Bruce, Yann Polfrit, Anne Thiebaut, Martin Gauthier, Cédric Le Maréchal, Eric Lippert, Stéphane Béziau, Céline Garrec, Betty Gardie, François Girodon

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ATRX loss in adult gliomas lacking H3 alterations or IDH mutations, an exceptional situation for exceptional diagnoses: the experience of Sainte-Anne hospital Autor Arnault Tauziède-Espariat, Alexandre Roux, Joseph Benzakoun, Paul Kauv, Sanaa Tazi, Alice Métais, Abigail K. Suwala, ·Felix Hinz, ·Lauren Hasty, Mathilde Filser, Julien Masliah-Planchon, Raphaël Saffroy, Margot Bucau, Johan Pallud, Pascale Varlet

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A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript Autor Mathias Schwartz, Mathilde Filser, Kevin Merchadou, Elisa Lemaitre, Khadija Abidallah, Henrique Tenreiro, Catherine Dubois D’enghien, Audrey Rapinat, Elise Pierre-Noel, Voreak Suybeng, Marion Espenel, Sylvain Baulande, Séverine Adams, Audrey Remenieras, Crystal Renaud, Camille Aucouturier, Capucine Delnatte, Céline Garrec, Victor Renault, Lisa Golmard, Emmanuelle Fourme, Julien Masliah-Planchon, Sandrine M. Caputo

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Author Correction: A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript Autor Mathias Schwartz, Mathilde Filser, Kevin Merchadou, Elisa Lemaitre, Khadija Abidallah, Henrique Tenreiro, Catherine Dubois D’enghien, Audrey Rapinat, Elise Pierre-Noel, Voreak Suybeng, Marion Espenel, Sylvain Baulande, Séverine Adams, Audrey Remenieras, Crystal Renaud, Camille Aucouturier, Capucine Delnatte, Céline Garrec, Victor Renault, Lisa Golmard, Emmanuelle Fourme, Julien Masliah-Planchon, Sandrine M. Caputo

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SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation Autor Jean-Madeleine de Sainte Agathe, Mathilde Filser, Bertrand Isidor, Thomas Besnard, Paul Gueguen, Aurélien Perrin, Charles Van Goethem, Camille Verebi, Marion Masingue, John Rendu, Mireille Cossée, Anne Bergougnoux, Laurent Frobert, Julien Buratti, Élodie Lejeune, Éric Le Guern, Florence Pasquier, Fabienne Clot, Vasiliki Kalatzis, Anne-Françoise Roux, Benjamin Cogné, David Baux

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