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Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|August 8, 2020
[Identification of a novel variant of COL4A5 gene in a pedigree affected with Alport syndrome]Xiaowei Liu, Ming Gao, Yang Zou, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|April 14, 2018
[Application of droplet digital PCR for non-invasive prenatal diagnosis of single gene disease in two families]Peiwen Xu, Yang Zou, Jie Li, et al.
Frontiers in Genetics|March 19, 2020
A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural ArachnodactylyPeiwen Xu, Ruirui Li, Sexin Huang, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|August 12, 2018
[Novel mutations of XPC gene detected in a family affected with xeroderma pigmentosum group C]Lijuan Wang, Sexin Huang, Jie Li, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|July 4, 2020
[Identification of a novel splicing variant of IDS gene in a pedigree affected with type II glycosaminoglycan product storage disease]Hongqiang Xie, Lijuan Wang, Sexin Huang, et al.
NPJ Genomic Medicine|March 12, 2025
Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysisQian Sun, Peiwen Xu, Aiping Mao, et al.
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