Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile
解读罕见病中复杂的遗传表型:智利罕见未确诊疾病的DECIPHERD计划
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-023-01523-5
Poli, M Cecilia; Rebolledo-Jaramillo, Boris; Lagos, Catalina; Orellana, Joan; Moreno, Gabriela; Martín, Luz M; Encina, Gonzalo; Böhme, Daniela; Faundes, Víctor; Zavala, M Jesús; Hasbún, Trinidad; Fischer, Sara; Brito, Florencia; Araya, Diego; Lira, Manuel; de la Cruz, Javiera; Astudillo, Camila; Lay-Son, Guillermo; Cares, Carolina; Aracena, Mariana; Martin, Esteban San; Coban-Akdemir, Zeynep; Posey, Jennifer E; Lupski, James R; Repetto, Gabriela M