Showing results (1-10 of 18) with videos related to

Sort By:
Pageof 2
Journal of Child Neurology|September 29, 2011
The natural history of infant spinal muscular atrophy in China: a study of 237 patientsXiushan Ge, Jinli Bai, Yanyu Lu, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|January 31, 2015
[Screening for genetic mutations in hyperphenylalaninemia using Ion Torrent PGM sequencing]Yanyan Cao, Yujin Qu, Fang Song, et al.
Journal of Human Genetics|February 14, 2020
Transmission characteristics of SMN from 227 spinal muscular atrophy core families in ChinaYanyan Cao, Yujin Qu, Jinli Bai, et al.
BMC Musculoskeletal Disorders|August 25, 2021
Bone mineral density and its influencing factors in Chinese children with spinal muscular atrophy types 2 and 3Xiaoyin Peng, Yujin Qu, Xiaohui Li, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|February 6, 2008
[In vitro expression and structural analysis of four missense mutations (G247S, E280G, P362T, A434D) of phenylalanine hydroxylase gene]Fang Song, Yujin Qu, Yoshiyuki Okano, et al.
Zhonghua Yi Xue Za Zhi|April 29, 2015
[Analysis of SMN1 gene partial deletion of spinal muscular atrophy based on MLPA]Wenhui Zhang, Yanyan Cao, Fang Song, et al.
Molecular Medicine Reports|December 18, 2015
X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3Jinli Bai, Yujin Qu, Yanyan Cao, et al.
Journal of Molecular Neuroscience : MN|August 20, 2020
Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular AtrophyJinLi Bai, YuJin Qu, Fang Song, et al.
Gene|October 30, 2017
The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humansJinLi Bai, YuJin Qu, YanYan Cao, et al.
Neuromuscular Disorders : NMD|April 11, 2021
Factors associated with delayed diagnosis of spinal muscular atrophy in China and changes in diagnostic delayYanyan Cao, Miaomiao Cheng, Yujin Qu, et al.
Pageof 2