The clinical application and challenges of preimplantation genetic testing by Fan Zhou, Fan Zhou, Xinlian Chen, Xinlian Chen, Shanling Liu, Shanling Liu, Xiaodong Wang, Xiaodong Wang

Get full text

Case Report: The nonsense variation of the cardiac transcription factor NKX2-5 has been identified in a Chinese family with nonsyndromic congenital heart disease by Haixia Zhang, Haixia Zhang, Jing Chen, Jing Chen, He Wang, He Wang, Qinqin Xiang, Qinqin Xiang, Shanling Liu, Shanling Liu

Get full text

Prenatal diagnosis of a compound heterozygous variation in the FBXL4 gene by trio-WES and imaging monitoring: a case report by Yujia Zhai, Yujia Zhai, Jing Chen, Jing Chen, Shuo Yang, Shuo Yang, He Wang, He Wang, Yuanyuan Xiao, Yuanyuan Xiao, Shanling Liu, Shanling Liu

Get full text

Functional characterization of SOX5 variant causing Lamb–Shaffer syndrome and literature review of variants in the SOX5 gene by Ping Wang, Hanbing Xie, Xiao Xiao, He Wang, Yan Wang, Shanling Liu

Get full text

Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3 by Jingqun Mai, Jingqun Mai, Zhu Zhang, Zhu Zhang, Bocheng Xu, Bocheng Xu, Shanling Liu, Shanling Liu, He Wang, He Wang, Hao Wang, Hao Wang, Shuo Yang, Shuo Yang

Get full text

Compound heterozygous missense and intronic variants in B9D1 contribute to a recurrent Meckel syndrome pedigree by Huining Jing, Huining Jing, Bocheng Xu, Bocheng Xu, Hao Wang, Hao Wang, Shanling Liu, Shanling Liu, He Wang, He Wang, Jingqun Mai, Jingqun Mai, Wencong Yao, Wencong Yao, Zhu Zhang, Zhu Zhang

Get full text

A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review by Wencong Yao, Bocheng Xu, Hao Wang, Shanling Liu, He Wang, Jingqun Mai, Xihan Wang, Xin Chen, Zhu Zhang

Get full text

Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication by Cuiting Peng, Cuiting Peng, Han Chen, Han Chen, Fan Zhou, Fan Zhou, Hong Yang, Hong Yang, Yutong Li, Yutong Li, Yuezhi Keqie, Yuezhi Keqie, Xu Zhao, Xu Zhao, He Wang, He Wang, Ting Hu, Ting Hu, Shanling Liu, Shanling Liu, Jun Ren, Jun Ren, Xinlian Chen, Xinlian Chen

Get full text

Bacterial Load on the Surface of Amniocentesis Operators with or without Long-Sleeved Surgical Gowns: A Prospective Cohort Study by Jinyu Wang, Ying Song, Lingling Sun, Xijing Liu, Fan Zhou, Qianying Zhao, Jing Wang, Xuemei Zhang, Mei Yang, Dan Xie, Ting Hu, Shanling Liu

Get full text