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Orphanet Journal of Rare Diseases|March 15, 2024
Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studiesZhiying Xie, Chang Liu, Haiyan Yu, et al.Journal of Cachexia, Sarcopenia and Muscle|December 26, 2023
A novel biomarker of fibrofatty replacement in dystrophinopathies identified by integrating transcriptome, magnetic resonance imaging, and pathology dataZhihao Xie, Chang Liu, Chengyue Sun, et al.Journal of Neurology|November 2, 2022
Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variantsZhiying Xie, Chengyue Sun, Chang Liu, et al.Journal of Medical Genetics|September 26, 2020
Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic eraZhiying Xie, Chengyue Sun, Yilin Liu, et al.Pageof 3