Showing results (11-20 of 27) with videos related to
Sort By:
Pageof 3
European Journal of Human Genetics : EJHG|October 1, 2015
A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophyYu-Jin Qu, Jin-Li Bai, Yan-Yan Cao, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|June 9, 2007
[The mutant spectrum of phenylalanine hydroxylase gene in Northern Chinese]Fang Song, Yu-jin Qu, Yan-ling Yang, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|December 14, 2011
[Analysis of survival motor neuron gene conversion in patients with spinal muscular atrophy]Sheng-xi He, Xiu-shan Ge, Yu-jin Qu, et al.Chinese Medical Journal|December 13, 2018
Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA SequencingYan-Yan Cao, Wen-Hui Zhang, Yu-Jin Qu, et al.Chinese Medical Journal|August 14, 2012
Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patientYan-Yan Cao, Yan-Ling Zhang, Juan DU, et al.Mutation Research|September 27, 2017
p.Val19Glyfs*21 and p.Leu228* variants in the survival of motor neuron 1 trigger nonsense-mediated mRNA decay causing the SMN1 PTC+ transcripts degradationYu-Jin Qu, Lin Ge, Jin-Li Bai, et al.Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics|September 20, 2011
[Mutation analysis of SMN1 gene in patients with spinal muscular atrophy]Juan DU, Yu-jin Qu, Hui Xiong, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|August 9, 2013
[Detection of homozygous deletions in spinal muscular atrophy with genomic DNA sequencing]Yan-yan Cao, Yu-jin Qu, Fang Song, et al.Journal of Zhejiang University. Science. B|January 8, 2016
Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophyYan-yan Cao, Yu-jin Qu, Sheng-xi He, et al.Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|April 5, 2011
[Point mutation analysis of SMN1 gene in patients with spinal muscular atrophy]Yu-jin QU, Juan DU, Er-zhen LI, et al.Pageof 3