A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication

by Jianlong Zhuang, Yuanbai Wang, Shuhong Zeng, Chunling Lv, Yiming Lin, Yuying Jiang
Published 2019-12-01

Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn

by Yiming Lin, Weihua Lin, Yanru Chen, Chunmei Lin, Zhenzhu Zheng, Jianlong Zhuang, Qingliu Fu
Published 2020-10-01

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

by Jianlong Zhuang, Chunnuan Chen, Yuying Jiang, Qi Luo, Shuhong Zeng, Chunling Lv, Yuanbai Wang, Wanyu Fu
Published 2021-01-01

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

by Jianlong Zhuang, Na Zhang, Wanyu Fu, Jianfeng Yao, Yanqing Li, Shuhong Zeng, Yuanbai Wang, Yingjun Xie, Yuying Jiang
Published 2021-09-01

Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study

by Jianlong Zhuang, Na Zhang, Yuanbai Wang, Hegan Zhang, Yu Zheng, Yuying Jiang, Yingjun Xie, Yingjun Xie, Dongmei Chen
Published 2021-09-01

Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases

by Yunsheng Ge, Jia Li, Jianlong Zhuang, Jian Zhang, Yanru Huang, Meihua Tan, Wei Li, Jiayan Chen, Yulin Zhou
Published 2021-04-01

The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature Review

by Jianlong Zhuang, Chunnuan Chen, Jia Li, Yuying Jiang, Junyu Wang, Yuanbai Wang, Shuhong Zeng, Yiming Lin, Yingjun Xie, Yingjun Xie
Published 2021-06-01

Molecular analysis of a large novel deletion causing α+-thalassemia

by Jianlong Zhuang, Jie Tian, Jitao Wei, Yu Zheng, Qianmei Zhuang, Yuanbai Wang, Qingyue Xie, Shuhong Zeng, Geng Wang, Yanchao Pan, Yuying Jiang
Published 2019-05-01