Application of the BACs-on-Beads assay for the prenatal diagnosis of chromosomal abnormalities in Quanzhou, China

por Zhuang, Jianlong, Chen, Chunnuan, Jiang, Yuying, Luo, Qi, Zeng, Shuhong, Lv, Chunling, Wang, Yuanbai, Fu, Wanyu
Publicado 2021

Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array

por Zhuang, Jianlong, Zhang, Na, Fu, Wanyu, Yao, Jianfeng, Li, Yanqing, Zeng, Shuhong, Wang, Yuanbai, Xie, Yingjun, Jiang, Yuying
Publicado 2021

Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview

por Zhuang, Jianlong, Chen, Chunnuan, Zhang, Hegan, Fu, Wanyu, Li, Yanqing, Jiang, Yuying, Zeng, Shuhong, Wu, Xiaoxia, Xie, Yingjun, Wang, Gaoxiong
Publicado 2022

A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures

por Zhuang, Jianlong, Xie, Meihua, Yao, Jianfeng, Fu, Wanyu, Zeng, Shuhong, Jiang, Yuying, Wang, Yuanbai, Xie, Yingjun, Wang, Gaoxiong, Chen, Chunnuan
Publicado 2023

Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of the LMBR1 Gene: First Case Report in Fujian Province of China

por Shi, Lijing, Huang, Hui, Jiang, Qiuxia, Huang, Rongsen, Fu, Wanyu, Mao, Liangwei, Wei, Xiaoming, Cui, Huanhuan, Lin, Keke, Cai, Licheng, Yang, You, Wang, Yuanbai, Wu, Jing
Publicado 2020