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Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|August 22, 2020
[Analysis of MECP2 gene variants in three pedigrees affected with Rett syndrome]Yuping Niu, Xiaowei Chen, Jie Li, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|December 17, 2016
[Identification of a novel splicing mutation of PKD1 gene in a pedigree affected with autosomal dominant polycystic kidney disease]Peiwen Xu, Yang Zou, Jie Li, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|July 26, 2016
[A novel pathogenic mutation of CRYGD gene in a congenital cataract family]Ming Gao, Sexin Huang, Jie Li, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|April 12, 2017
[Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia]Jie Li, Peiwen Xu, Sexin Huang, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|June 7, 2021
[A case of tuberous sclerosis complex due to a novel splicing variant of TSC2 gene]Yuping Niu, Sexin Huang, Peiwen Xu, et al.Human Reproduction (Oxford, England)|March 10, 2015
Novel missense mutation in WNT6 in 100 couples with unexplained recurrent miscarriageYimei Zhang, Guangyu Li, Yuanyuan Fan, et al.Journal of Assisted Reproduction and Genetics|June 6, 2020
Complex preimplantation genetic tests for Robertsonian translocation, HLA, and X-linked hyper IgM syndrome caused by a novel mutation of CD40LG geneSexin Huang, Yuping Niu, Jie Li, et al.BMC Medical Genetics|October 22, 2020
A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case reportYuping Niu, Sexin Huang, Zeyu Wang, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|September 1, 2016
[Application of droplet digital PCR technology for genetic testing and prenatal diagnosis of spinal muscular atrophy]Yang Zou, Peiwen Xu, Jie Li, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|August 5, 2017
[A novel mutation of GLI3 gene underlying synpolydactyly in a family]Ranran Kang, Sexin Huang, Jie Li, et al.Pageof 2