Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Margot Grisval"'
Autor:
Julian Delanne, Ange-Line Bruel, Frédéric Huet, Sébastien Moutton, Sophie Nambot, Margot Grisval, Nada Houcinat, Paul Kuentz, Arthur Sorlin, Patrick Callier, Nolwenn Jean-Marcais, Anne-Laure Mosca-Boidron, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Daphné Lehalle, Salima El Chehadeh, Christine Francannet, Marine Lebrun, Laetitia Lambert, Marie-Line Jacquemont, Marion Gerard-Blanluet, Jean-Luc Alessandri, Marjolaine Willems, Julien Thevenon, Mondher Chouchane, Véronique Darmency, Clémence Fatus-Fauconnier, Sébastien Gay, Marie Bournez, Alice Masurel, Vanessa Leguy, Yannis Duffourd, Christophe Philippe, François Feillet, Laurence Faivre, Christel Thauvin-Robinet
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100812- (2021)
Considering that some Inherited Metabolic Disorders (IMDs) can be diagnosed in patients with no distinctive clinical features of IMDs, we aimed to evaluate the power of exome sequencing (ES) to diagnose IMDs within a cohort of 547 patients with unspe
Externí odkaz:
https://doaj.org/article/6b43835fd34647d4a03a8cc096c8582e
Autor:
Florence, Riccardi, Alexandre, Astier, Margot, Grisval, Arnaud, Maillard, Vincent, Michaud, Catherine, Badens, Christopher T, Gordon, Aurélien, Trimouille, Laurence, Faivre, Jeanne, Amiel, Sabine, Sigaudy, Svetlana, Gorokhova
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 23(10)
Autor:
Aurélien Trimouille, Jeanne Amiel, Florence Riccardi, Catherine Badens, Vincent Michaud, Margot Grisval, Alexandre Astier, Svetlana Gorokhova, Sabine Sigaudy, Arnaud Maillard, Laurence Faivre, Christopher T. Gordon
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (10), pp.2003-2004. ⟨10.1038/s41436-021-01208-8⟩
Genetics in Medicine, Nature Publishing Group, 2021, 23 (10), pp.2003-2004. ⟨10.1038/s41436-021-01208-8⟩