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Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|April 6, 2019
[Molecular diagnosis and functional study of a pedigree affected with Lubs X-linked mental retardation syndrome]Chen Jiang, Nan Pan, Weigang Lyu, et al.
International Journal of Molecular Sciences|July 27, 2022
Targeted-Deletion of a Tiny Sequence via Prime Editing to Restore SMN ExpressionMiaojin Zhou, Shuqing Tang, Nannan Duan, et al.
Frontiers in Genetics|July 9, 2024
Application of whole exome sequencing in carrier screening for high-risk families without probandsQinlin Huang, Zhongjie Wang, Yanling Teng, et al.
Human Genomics|October 8, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individualsQinlin Huang, Juan Wen, Hongyun Zhang, et al.
Medcomm|May 13, 2024
iPSC-derived NK cells with site-specific integration of CAR19 and IL24 at the multi-copy rDNA locus enhanced antitumor activity and proliferationYuxuan Zhang, Qingxin Shi, Peiyun Wang, et al.
Journal of Genetic Counseling|July 17, 2016
Notable Carrier Risks for Individuals Having Two Copies of SMN1 in Spinal Muscular Atrophy Families with 2-copy Alleles: Estimation Based on Chinese Meta-analysis DataXianda Wei, Hu Tan, Pu Yang, et al.
Molecular Genetics & Genomic Medicine|June 17, 2020
Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndromeJing Liu, Pengsiyuan Lin, Jialun Pang, et al.
Reproductive Health|September 10, 2022
A novel homozygous mutation in the PADI6 gene causes early embryo arrestXiaoxia Wang, Huimin Zhu, Yi He, et al.
Medicine|May 18, 2019
Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification: Case seriesXigui Long, Zhuo Li, Yanru Huang, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|December 10, 2008
[Mutation screening of the dystrophin gene in 14 Chinese Duchenne/Becker muscular dystrophy patients without gross deletions]Jinjie Xue, Haiyan Zhu, Lingqian Wu, et al.
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