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Frontiers in Genetics|July 19, 2021
Novel Mutations in the <i>GTPBP3</i> Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From ChinaHui-Ming Yan, Zhi-Mei Liu, Bei Cao, et al.Prenatal Diagnosis|July 20, 2024
Customizing carrier screening in the Chinese population: Insights from a 334-gene panelSha Liu, Shuang Huang, Victor Wei Zhang, et al.Journal of Medical Genetics|April 3, 2026
Expanded carrier screening in a Southwestern Chinese population indicates East Asian specific low-frequency pathogenic variants account for nearly half of the at-risk couple rateSha Liu, Liyuan Cao, Victor Wei Zhang, et al.Frontiers in Genetics|December 30, 2021
Identification and Functional Characterization of a Novel Nonsense Variant in <i>ARR3</i> in a Southern Chinese Family With High MyopiaDejian Yuan, Tizhen Yan, Shiqiang Luo, et al.Frontiers in Genetics|September 8, 2022
Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in ChinaKeya Tong, Wenbin He, Yao He, et al.Gene|February 23, 2020
Profiling of mitochondrial genomes in SCA3/MJD patients from mainland ChinaHongyu Yuan, Huihua Yang, Linliu Peng, et al.The Journal of Molecular Diagnostics : JMD|March 6, 2016
Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation SequencingLan Qin, Jing Wang, Xia Tian, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2020
Correction: Interpretation of mitochondrial tRNA variantsLee-Jun C Wong, Ting Chen, Jing Wang, et al.Frontiers in Genetics|August 8, 2022
Discovery of Novel Variants on the <i>CHD7</i> Gene: A Case Series of CHARGE SyndromeXiangtao Wu, Liang Chen, Weihong Lu, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 10, 2020
Correction: Interpretation of mitochondrial tRNA variantsLee-Jun C Wong, Ting Chen, Jing Wang, et al.Pageof 8