Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Jinli Bai"'
Autor:
Shijia Ouyang, Xiaoyin Peng, Wenchen Huang, Jinli Bai, Hong Wang, Yuwei Jin, Hui Jiao, Maoti Wei, Xiushan Ge, Fang Song, Yujin Qu
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/c29c24054d1445d3bb2f72bbd6cc5729
Autor:
Shijia Ouyang, Xiaoyin Peng, Wenchen Huang, Jinli Bai, Hong Wang, Yuwei Jin, Hui Jiao, Maoti Wei, Xiushan Ge, Fang Song, Yujin Qu
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundBiomarkers can be used to assess the severity of spinal muscular atrophy (5q SMA; SMA). Despite their potential, the relationship between biomarkers and clinical outcomes in SMA remains underexplored. This study aimed to assess the associat
Externí odkaz:
https://doaj.org/article/4891f3f47d464ab0b64f3b78ff8f6c73
Variants located in intron 6 of SMN1 lead to misdiagnosis in genetic detection and screening for SMA
Autor:
Yujin Qu, Jinli Bai, Hui Jiao, Hong Qi, Wenchen Huang, Shijia OuYang, Xiaoyin Peng, Yuwei Jin, Hong Wang, Fang Song
Publikováno v:
Heliyon, Vol 10, Iss 6, Pp e28015- (2024)
Accurate genetic diagnosis is necessary for guiding the treatment of spinal muscular atrophy (SMA). An updated consensus for the diagnosis and management of SMA was published in 2018. However, clinicians should remain alert to some pitfalls of geneti
Externí odkaz:
https://doaj.org/article/b844da04ae9f4896a4351e47954502f1
Publikováno v:
Applied Sciences, Vol 10, Iss 20, p 7351 (2020)
Recently, a number of data analysists have suffered from an insufficiency of historical observations in many real situations. To address the insufficiency of historical observations, self-starting forecasting process can be used. A self-starting fore
Externí odkaz:
https://doaj.org/article/6d02994c1084468a8c5a279e5dfb65e4
Autor:
Jinli Bai, Yujin Qu, Shijia OuYang, Hui Jiao, Yang Wang, Jingjing Li, Wenchen Huang, Yunlong Zhao, Xiaoyin Peng, Depeng Wang, Yuwei Jin, Hong Wang, Fang Song
Publikováno v:
Neuromuscular Disorders. 33:382-390
Autor:
Jia, Wang, Jinli, Bai, Shijia, OuYang, Hong, Wang, Yuwei, Jin, Xiaoyin, Peng, Xiushan, Ge, Hui, Jiao, Jizhen, Zou, Cai, He, Ping, Xiao, Fang, Song, Yujin, Qu
Publikováno v:
Human Molecular Genetics. 31:1635-1650
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by homozygous deletions or mutations in survival motor neuron gene 1 (SMN1). Currently, the primary therapeutic strategy for SMA is to increase the level of SMN via
Publikováno v:
Journal of Petroleum Science and Engineering. 215:110600
Publikováno v:
Applied Sciences
Volume 10
Issue 20
Applied Sciences, Vol 10, Iss 7351, p 7351 (2020)
Volume 10
Issue 20
Applied Sciences, Vol 10, Iss 7351, p 7351 (2020)
Recently, a number of data analysists have suffered from an insufficiency of historical observations in many real situations. To address the insufficiency of historical observations, self-starting forecasting process can be used. A self-starting fore
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(10)
To explore the genetic basis for an infant with congenital generalized lipodystrophy.Peripheral blood samples of the child and her parents were collected for the extraction of genomic DNA. All exons and flanking sequences of the AGPAT2 gene were subj