Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study
靶向二代测序作为孟德尔遗传病综合检测手段:一项队列诊断研究
期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-018-30151-z
Sun, Yan; Man, Jianfen; Wan, Yang; Pan, Gao; Du, Lique; Li, Long; Yang, Yun; Qiu, Liru; Gao, Qing; Dan, Handong; Mao, Liangwei; Cheng, Zhengyu; Fan, Chen; Yu, Jing; Lin, Mufei; Kristiansen, Karsten; Shen, Yin; Wei, Xiaoming