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Molecular Genetics & Genomic Medicine|January 9, 2026
A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1FQifan Ma, Chenyang Xu, Xueqin Xu, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|December 9, 2024
[Genetic analysis of two novel variants in a Chinese pedigree affected with intellectual disorder]Xiaoxiao Lyu, Chenyang Xu, Yunzhi Xu, et al.Journal of Clinical Laboratory Analysis|September 27, 2022
Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing lossYanbao Xiang, Chenyang Xu, Yunzhi Xu, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|March 22, 2022
[Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome]Yanbao Xiang, Ru Wan, Huanzheng Li, et al.Molecular Genetics & Genomic Medicine|February 27, 2021
Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactylyLin Hu, Huanzheng Li, Guang Sun, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|April 14, 2018
[Mutation analysis and prenatal diagnosis for 50 pedigrees affected with Duchenne/Becker muscular dystrophy]Huanzheng Li, Chenyang Xu, Yijian Mao, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|October 6, 2017
[Mutational analysis and prenatal diagnosis in a family affected with hypophosphatemic rickets]Zhaotang Luan, Huanzheng Li, Lin Hu, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|September 1, 2016
[Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease]Yanbao Xiang, Huanzheng Li, Chenyang Xu, et al.Molecular Diagnosis & Therapy|November 22, 2018
Correction to: Genome-Wide Array Analysis Reveals Novel Genomic Regions and Candidate Gene for Intellectual DisabilityXiangnan Chen, Huanzheng Li, Chong Chen, et al.Molecular Diagnosis & Therapy|September 28, 2018
Genome-Wide Array Analysis Reveals Novel Genomic Regions and Candidate Gene for Intellectual DisabilityXiangnan Chen, Huanzheng Li, Chong Chen, et al.Pageof 2