The Use of CRISPR/Cas9 as a Tool to Study Human Infectious Viruses

por Lin, Huafeng, Li, Gang, Peng, Xiangwen, Deng, Aimin, Ye, Lei, Shi, Lei, Wang, Tuanmei, He, Jun
Publicado 2021

A de novo mutation of ADAMTS8 in a patient with Wiedemann–Steiner syndrome

por Wang, Sifeng, Yan, Shuyuan, Xiao, Jingjun, Chen, Ying, Chen, Anji, Deng, Aimin, Wang, Tuanmei, He, Jun, Peng, Xiangwen
Publicado 2023

Bohring-Opitz syndrome caused by a novel ASXL1 mutation (c.3762delT) in an IVF baby: A case report

por Wang, Dongbo, Yuan, Xin, Guo, Haichun, Yan, Shuyuan, Wang, Guohong, Wang, Yanling, Wang, Tuanmei, He, Jun, Peng, Xiangwen
Publicado 2022

The clinical spectrum of a nonsense mutation in KAT6A: a case report

por Wang, Dongbo, He, Jun, Li, Xueyi, Yan, Shuyuan, Pan, Linglin, Wang, Tuanmei, Zhou, Liangrong, Liu, Jiyang, Peng, Xiangwen
Publicado 2022

Underdevelopment of gut microbiota in failure to thrive infants of up to 12 months of age

por Zhang, Mei, Miao, Dan, Ma, Qi, Chen, Tao, Wang, Tuanmei, Yan, Shuyuan, Zhu, Wendan, Zhou, Fan, He, Jun, Kuang, Xiaoni
Publicado 2022

A novel UBE2A splice site variant causing intellectual disability type Nascimento

por Yan, Shuyuan, Wang, Yanling, Chen, Ying, Yuan, Hongxia, Kuang, Xiaoni, Hou, Da, Li, Xueyi, Pan, Linglin, Huang, Guangwen, He, Jun, Wang, Tuanmei, Peng, Xiangwen
Publicado 2022