Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy

by Ke Gong, Li Xie, Zhong‐shi Wu, Xia Xie, Xing‐xing Zhang, Jin‐Lan Chen
Published 2021-04-01

Rare de novo copy number variants in patients with congenital pulmonary atresia.

by Li Xie, Jin-Lan Chen, Wei-Zhi Zhang, Shou-Zheng Wang, Tian-Li Zhao, Can Huang, Jian Wang, Jin-Fu Yang, Yi-Feng Yang, Zhi-Ping Tan
Published 2014-01-01