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pro vyhledávání: '"Romain Duquet"'
Autor:
Frédéric Tran Mau-Them, Alexis Overs, Ange-Line Bruel, Romain Duquet, Mylene Thareau, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Arthur Sorlin, Hana Safraou, Sophie Nambot, Julian Delanne, Sebastien Moutton, Caroline Racine, Camille Engel, Melchior De Giraud d’Agay, Daphne Lehalle, Alice Goldenberg, Marjolaine Willems, Christine Coubes, David Genevieve, Alain Verloes, Yline Capri, Laurence Perrin, Marie-Line Jacquemont, Laetitia Lambert, Elodie Lacaze, Julien Thevenon, Nadine Hana, Julien Van-Gils, Charlotte Dubucs, Varoona Bizaoui, Marion Gerard-Blanluet, James Lespinasse, Sandra Mercier, Anne-Marie Guerrot, Isabelle Maystadt, Emilie Tisserant, Laurence Faivre, Christophe Philippe, Yannis Duffourd, Christel Thauvin-Robinet
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Exome sequencing has a diagnostic yield ranging from 25% to 70% in rare diseases and regularly implicates genes in novel disorders. Retrospective data reanalysis has demonstrated strong efficacy in improving diagnosis, but poses organiz
Externí odkaz:
https://doaj.org/article/c14e4795329344a3bad7a62c2a7011bd
Autor:
Frédéric Tran Mau Them, Alexis Overs, ange-line bruel, Romain Duquet, Mylene Thareau, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Arthur Sorlin, Hana Safraou, Sophie Nambot, Julian Delanne, Sebastien Moutton, Caroline RACINE, Camille Engel, Melchior D’agay, Daphné Lehalle, Alice Goldenberg, Marjolaine Willems, christine Coubes, David Geneviève, Alain Verloes, Yline CAPRI, Laurence Perrin, Marie-Line Jacquemont, Laetitia Lambert, Elodie Lacaze, Julien Thevenon, Nadine Hanna, Van-Gils Julien, Charlotte Dubucs, Varoona Bizaoui, Marion Gerard, James Lespinasse, Sandra Mercier, Anne-Marie Guerrot, Isabelle Maystadt, Emilie Tisserant, Laurence Faivre, Christophe Philippe, Yannis Duffourd, Christel Thauvin-Robinet
Purpose: Exome sequencing has a diagnostic yield ranging from 25% to 70% in rare diseases and regularly implicates genes in novel disorders. Prospective data reanalysis has demonstrated strong efficacy in improving diagnosis, but poses organizational
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8f0f03d2c87e40855fced245eeee77c6
https://doi.org/10.22541/au.164684924.40795659/v1
https://doi.org/10.22541/au.164684924.40795659/v1