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Molecular Genetics & Genomic Medicine|May 31, 2021
Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single centerHui Xi, Wanqin Xie, Jing Chen, et al.Neurobiology of Disease|July 13, 2020
Neddylation activity modulates the neurodegeneration associated with fragile X associated tremor/ataxia syndrome (FXTAS) through regulating SimaYunting Lin, Jin Xue, Jing Deng, et al.European Journal of Neurology|September 10, 2022
Clinical features and reclassification of essential tremor with NOTCH2NLC GGC repeat expansions based on a long-term follow-upXun Zhou, Hongyan Huang, Runcheng He, et al.The Journal of Molecular Diagnostics : JMD|July 20, 2024
Strategic Implementation of Fragile X Carrier Screening in China: A Focused Pilot StudyJin Xue, Yingbao Zhu, Yi Pan, et al.Molecular Genetics & Genomic Medicine|April 14, 2020
Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancyFei Gao, Wen Huang, Yanjun You, et al.Frontiers in Neurology|March 17, 2020
TTTCA Repeat Expansion of <i>SAMD12</i> in a New Benign Adult Familial Myoclonic Epilepsy PedigreeChaorong Liu, Yanmin Song, Ying Yuan, et al.Genome Biology|January 6, 2021
N6-methyladenosine dynamics in neurodevelopment and aging, and its potential role in Alzheimer's diseaseAndrew M Shafik, Feiran Zhang, Zhenxing Guo, et al.Journal of Neurology|June 26, 2023
The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathiesMengli Wang, Honglan Yang, Zhiqiang Lin, et al.FEBS Letters|December 3, 2014
miR-25 alleviates polyQ-mediated cytotoxicity by silencing ATXN3Fengzhen Huang, Li Zhang, Zhe Long, et al.Cell Reports|November 19, 2023
A homozygous variant in INTS11 links mitosis and neurogenesis defects to a severe neurodevelopmental disorderHanzhe Kuang, Yunlong Li, Yixuan Wang, et al.Pageof 7