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Pediatric Neurology|January 4, 2023
Pathogenic PSAT1 Variants and Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With IchthyosisYanyu Lu, Haiying Xing, Chang Liu, et al.Orphanet Journal of Rare Diseases|November 22, 2019
Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complexZhiying Xie, Zhihao Xie, Meng Yu, et al.Frontiers in Genetics|September 12, 2022
Exonization of a deep intronic long interspersed nuclear element in Becker muscular dystrophyZhiying Xie, Chang Liu, Yanyu Lu, et al.Heliyon|March 28, 2024
A novel deep intronic variant introduce <i>dystrophin</i> pseudoexon in Becker muscular dystrophy: A case reportChang Liu, Yanyu Lu, Haiyan Yu, et al.Stroke|May 14, 2020
Deep Gray Matter Iron Deposition and Its Relationship to Clinical Features in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Patients: A 7.0-T Magnetic Resonance Imaging StudyChengyue Sun, Yue Wu, Chen Ling, et al.Journal of Clinical Laboratory Analysis|November 16, 2023
Cryptic exon activation caused by a novel deep-intronic splice-altering variant in Becker muscular dystrophyZhiying Xie, Yunlong Lu, Chang Liu, et al.Neuromuscular Disorders : NMD|January 9, 2024
A new pseudoexon activation due to ultrarare branch point formation in Duchenne muscular dystrophyZhiying Xie, Chengyue Sun, Chang Liu, et al.Genes|October 14, 2020
Splicing Characteristics of Dystrophin Pseudoexons and Identification of a Novel Pathogenic Intronic Variant in the <i>DMD</i> GeneZhiying Xie, Liuqin Tang, Zhihao Xie, et al.Annals of Clinical and Translational Neurology|September 20, 2020
Long-read whole-genome sequencing for the genetic diagnosis of dystrophinopathiesZhiying Xie, Chengyue Sun, Siwen Zhang, et al.Frontiers in Pediatrics|July 11, 2022
First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-SarcoglycanopathyZhiying Xie, Chengyue Sun, Chang Liu, et al.Pageof 3