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CORC

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Evaluation of Prospective HLA-B*13:01 Screening to Prevent Dapsone Hypersensitivity Syndrome in Patients With Leprosy 期刊论文
2019, 卷号: 155, 期号: 6, 页码: 666-672
作者:  Liu, Hong;  Wang, Zhenzhen;  Bao, Fangfang;  Wang, Chuan;  Sun, Lele
收藏  |  浏览/下载：36/0  |  提交时间：2020/01/03
一种便捷式清洗窗 专利
申请日期: 2018-05-25, 公开日期: 2018-05-25
作者:  李阳;  李建毅;  魏庭;  袁腊梅
收藏  |  浏览/下载：0/0  |  提交时间：2020/11/11
Identification of a novel mutation in the ABCA4 gene in a Chinese family with retinitis pigmentosa using exome sequencing 期刊论文
Bioscience Reports, 2018, 卷号: 38, 期号: 2
作者:  Huang, Xiangjun;  Yuan, Lamei;  Xu, Hongbo;  Zheng, Wen;  Cao, Yanna
收藏  |  浏览/下载：11/0  |  提交时间：2019/12/27
Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy‐dystroglycanopathy C1 期刊论文
Journal of Cellular and Molecular Medicine, 2017, 卷号: 21, 期号: 7, 页码: 1388-1393
作者:  Hu, Pengzhi;  Wu, Song;  Yuan, Lamei;  Lin, Qiongfen;  Zheng, Wen
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/03
Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1 期刊论文
Molecular Medicine Reports, 2017, 卷号: 15, 期号: 3, 页码: 1426-1430
作者:  Lui, Qian;  Yuan, Lamei;  Xu, Hongbo;  Huang, Xiangjun;  Yang, Zhijian
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/27
Association of the MTHFR rs1801131 and rs1801133 variants in sporadic Parkinson's disease patients 期刊论文
Neuroscience Letters, 2016, 卷号: 616, 页码: 26-31
作者:  Yuan, Lamei;  Song, Zhi;  Deng, Xiong;  Xiong, Wei;  Yang, Zhijian
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/03
A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis 期刊论文
Journal of Cellular and Molecular Medicine, 2016, 卷号: 20, 期号: 12, 页码: 2328-2332
作者:  Wu, Yuan;  Hu, Pengzhi;  Xu, Hongbo;  Yuan, Jinzhong;  Yuan, Lamei
收藏  |  浏览/下载：8/0  |  提交时间：2019/12/03
Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J 期刊论文
Molecular Neurobiology, 2016, 卷号: 53, 期号: 8, 页码: 5097-5102
作者:  Zheng, Wen;  Chen, Han;  Deng, Xiong;  Yuan, Lamei;  Yang, Yan
收藏  |  浏览/下载：8/0  |  提交时间：2019/12/03
Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures 期刊论文
Molecular Neurobiology, 2016, 卷号: 53, 期号: 2, 页码: 835-841
作者:  Zheng, Wen;  Zhang, Jie;  Deng, Xiong;  Xiao, Jingjing;  Yuan, Lamei
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/03
Genetic analysis of TREM2 variants in Chinese Han patients with sporadic Parkinson's disease 期刊论文
Neuroscience Letters, 2016, 卷号: 612, 页码: 189-192
作者:  Tan, Ting;  Song, Zhi;  Yuan, Lamei;  Xiong, Wei;  Deng, Xiong
收藏  |  浏览/下载：14/0  |  提交时间：2019/12/03
PD  Parkinson’s disease  AD  Alzheimer’s disease  TREM2  the triggering receptor expressed on myeloid cells 2 gene  VPS35  the vacuolar protein sorting 35 gene  EIF4G1  the eukaryotic translation initiation factor 4-gamma 1 gene  S100B  the S100 calcium binding protein B gene  FBXO48  the F-box protein 48 gene  RAB39B  the RAB39B, member RAS oncogene family gene  TCEANC2  the transcription elongation factor A (SII) N-terminal and central domain containing 2 gene  MC1R  the melanocortin 1 receptor gene  SIFT  Sorting Intolerant from Tolerant  PolyPhen-2  Polymorphism Phenotyping v2  SNP  single nucleotide polymorphism  MAF  minor allele frequency  PCR  polymerase chain reaction  FTD  frontotemporal dementia  FTLD  frontotemporal lobar degeneration  ALS  amyotrophic lateral sclerosis  Sporadic Parkinson’s disease  TREM2 gene  rs75932628  rs2234253  Genetic analysis  Chinese Han  

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