Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey
儿童期发病疾病的外显子组测序：医学遗传学家广泛参与诊断历程的影响
期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-018-0056-5
Mak, Christopher Cy; Leung, Gordon Kc; Mok, Gary Tk; Yeung, Kit San; Yang, Wanling; Fung, Cheuk-Wing; Chan, Sophelia Hs; Lee, So-Lun; Lee, Ni-Chung; Pfundt, Rolph; Lau, Yu-Lung; Chung, Brian Hy
