Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Feng-Xia Yao"'
Autor:
Yuan-Ren Tong, Chang Geng, Yu-Zhou Guan, Yan-Huan Zhao, Hai-Tao Ren, Feng-Xia Yao, Chao Ling, Dan-Chen Wang, Lin Chen, Li-Ying Cui, Shu-Yang Zhang, Yi Dai
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive neuromuscular disorders caused by mutations in DMD. A high-quality database of DMD/BMD is essential not only for clinical practice but also for fundamental r
Externí odkaz:
https://doaj.org/article/b39a3e834c0b4f7e9ef083687870c441
Autor:
Jian-Cheng Wang, Yan-An Guan, Dong-Jian Wang, Han Zhang, Guo-An Song, Ru-Yu Li, Jin-Fang Xu, Feng-Xia Yao
Publikováno v:
ACTA AGRONOMICA SINICA. 37:224-234
Autor:
Yan-An Guan, Xincheng Zhou, Jian-Cheng Wang, Chunqing Zhang, Guo-An Song, Feng-Xia Yao, Han Zhang, Ruyu Li
Publikováno v:
Genetic Resources and Crop Evolution. 57:1-15
A collection of sorghum, including more than 12,000 Chinese landraces, has been constructed and maintained in China. However, the genetic diversity of Chinese sorghum landraces has not been fully investigated, and the origin of Chinese sorghum is sti
Autor:
Yan, Meng, Wei-min, Zhang, Hui-ping, Shi, Feng-xia, Yao, Zheng-qing, Qiu, Tao, Yang, Shi-min, Zhao, Shang-zhi, Huang
Publikováno v:
Zhonghua er ke za zhi = Chinese journal of pediatrics. 51(11)
Multiple sulfatase deficiency is a rare autosomal recessively inherited lysosomal storage disorder characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. The aim of this study was to explore the clinical manifestations, en
Autor:
Han-bi, Wang, Qin-jie, Tian, Ai-jun, Sun, Feng-xia, Yao, Xiao-di, Kang, Ying, Zhang, Rong, Chen
Publikováno v:
Zhonghua fu chan ke za zhi. 47(7)
To investigate efficient diagnosis and treatment of 17α-hydroxylase (17OHD) deficiency by summarizing clinical characteristics of those patients.From January 1983 to January 2010, 48 cases with 17OHD in Peking Union Medical College Hospital were stu
Autor:
Xin-Ning, Wang, Min, Wei, Hui-Ping, Shi, Zheng-Qing, Qiu, Feng-Xia, Yao, Yan, Meng, Wei-Min, Zhang
Publikováno v:
Zhonghua er ke za zhi = Chinese journal of pediatrics. 49(4)
Mucopolysaccharidosis type I (MPS I; MIM# 252800) is an autosomal recessive disease that results from the deficiency in the lysosomal enzyme α-L-iduronidase(IDUA). IDUA is one of the enzymes involved in degradation of glycosaminoglycans heparan sulp
Autor:
Xin-ning, WANG, Hui-ping, SHI, Wei-min, ZHANG, Zheng-qing, QIU, Yan, MENG, Feng-xia, YAO, Min, WEI
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 28(2)
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease resulting from the deficiency in the lysosomal enzyme alpha-L-iduronidase (IDUA). The present study was conducted to identify IDUA gene mutations in attenuated (MPS I H/S and MPS
Publikováno v:
Zhonghua fu chan ke za zhi. 45(7)
To establish the multiple quantitative fluorescent polymerase chain reaction (QF-PCR) assay and evaluate its clinical application in prenatal diagnosis.Totally 170 samples were collected between May 2008 and July 2009 in prenatal center of Peking Uni
Autor:
Wei-min, Zhang, N L, Tang, Yan, Meng, Feng-xia, Yao, Zheng-qing, Qiu, Yan-long, Duan, Shang-zhi, Huang, Hui-ping, Shi
Publikováno v:
Zhonghua yi xue za zhi. 89(48)
To review and investigate the relationship of genotype and phenotype in Chinese patients with Gaucher disease (GD).The samples were first screened for known mutations as reported previously in Chinese population. Long chain PCR and nested PCR were em
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 24(4)
To increase the success rate of prenatal diagnosis for classical phenylketonuria(PKU).Three new short tandem repeat (STR) markers (PAH26, PAH32 and PAH9) within and surrounding phenylalanine hydroxylase(PAH) gene were selected for amplified fragment