The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders
在一项包含547名发育障碍患者的队列研究中，通过外显子组测序诊断遗传性代谢疾病的诊断率
期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2021.100812
Delanne, Julian; Bruel, Ange-Line; Huet, Frédéric; Moutton, Sébastien; Nambot, Sophie; Grisval, Margot; Houcinat, Nada; Kuentz, Paul; Sorlin, Arthur; Callier, Patrick; Jean-Marcais, Nolwenn; Mosca-Boidron, Anne-Laure; Mau-Them, Frédéric Tran; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Lehalle, Daphné; El Chehadeh, Salima; Francannet, Christine; Lebrun, Marine; Lambert, Laetitia; Jacquemont, Marie-Line; Gerard-Blanluet, Marion; Alessandri, Jean-Luc; Willems, Marjolaine; Thevenon, Julien; Chouchane, Mondher; Darmency, Véronique; Fatus-Fauconnier, Clémence; Gay, Sébastien; Bournez, Marie; Masurel, Alice; Leguy, Vanessa; Duffourd, Yannis; Philippe, Christophe; Feillet, François; Faivre, Laurence; Thauvin-Robinet, Christel
