Qiandui Chen

Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C

Jiayi Li, Shuang-Zhu Lin, Suli Zhang, 2022, Frontiers in Pediatrics.

A nonsense mutation in the CUL3 gene in a Chinese patient with autism spectrum disorder and epilepsy: A case report

Qiandui Chen, Jiayi Li, Shuangzhu Lin, 2022, Medicine.

Thyroid hormone resistance resulting from a novel mutation in the THRB gene in a Chinese child: A case report

J. Feng, Wen Wang, Qiandui Chen, 2023, Medicine.

A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China

Yang Chen, Xiaochun Feng, Qiandui Chen, 2023, Medicine.

Spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a Chinese child: A case report

Qiandui Chen, Jiayi Li, Shuangzhu Lin, 2023, Medicine.