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

por Gong, Ke, Xie, Li, Wu, Zhong‐shi, Xie, Xia, Zhang, Xing‐xing, Chen, Jin‐Lan
Publicado 2021

Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11

por Chen, Jin-Lan, Zhu, Xin, Zhao, Tian-Li, Wang, Jian, Yang, Yi-Feng, Tan, Zhi-Ping
Publicado 2014

Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death

por Tan, Zhi-Ping, Xie, Li, Deng, Yao, Chen, Jin-Lan, Zhang, Wei-Zhi, Wang, Jian, Yang, Jin-Fu, Yang, Yi-Feng
Publicado 2014

Multimodality imaging in diagnosing lipomatous atrial septal hypertrophy with atrial septal defect: a case report

por Yu, Yi, Ding, Ming, Chen, Jin-Lan, Wang, Ting, Chen, Yu-Han, Yang, Xiao-Min, Chen, Su-Yun, Wang, Yue-Peng, Li, Yi-Gang
Publicado 2023

Rare De Novo Copy Number Variants in Patients with Congenital Pulmonary Atresia

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