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Bi-Allelic Mutations in NUP205 and NUP210 Are Associated With Abnormal Cardiac Left-Right Patterning 期刊论文
CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2019, 卷号: 12, 期号: 7
作者:  Chen, Weicheng;  Zhang, Yuan;  Yang, Sunhu;  Shi, Zhiwen;  Zeng, Weijia
收藏  |  浏览/下载:20/0  |  提交时间:2019/12/05
A Nonsense Mutation in COL4A4 Gene Causing Isolated Hematuria in Either Heterozygous or Homozygous State 期刊论文
FRONTIERS IN GENETICS, 2019, 卷号: 10
作者:  Yang, Cheng;  Song, Yuan;  Chen, Zhaowei;  Yuan, Xiaohan;  Chen, Xinhua
收藏  |  浏览/下载:24/0  |  提交时间:2019/12/05
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. 期刊论文
Journal of the American Society of Nephrology, 2019
作者:  Nina Mann;  Daniela A Braun;  Kassaundra Amann;  Weizhen Tan;  Shirlee Shril
收藏  |  浏览/下载:27/0  |  提交时间:2019/12/13
Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia 会议论文
作者:  Zhao, Zhongbo;  Lin, Jie;  Wang, Zhangyang;  Lu, Jiahong
收藏  |  浏览/下载:3/0  |  提交时间:2019/12/05
Germline Duplication of SNORA18L5 Increases Risk for HBV-related Hepatocellular Carcinoma by Altering Localization of Ribosomal Proteins and Decreasing Levels of p53 期刊论文
GASTROENTEROLOGY, 2018, 卷号: 155, 期号: 2
作者:  Cao, Pengbo;  Yang, Aiqing;  Wang, Rui;  Xia, Xia;  Zhai, Yun
收藏  |  浏览/下载:11/0  |  提交时间:2019/12/05
Rho Guanine Nucleotide Exchange Factor ARHGEF17 Is a Risk Gene for Intracranial Aneurysms 期刊论文
CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2018, 卷号: 11, 期号: 7
作者:  Yang, Xinyu;  Li, Jiani;  Fang, Yabo;  Zhang, Zhen;  Jin, Daqing
收藏  |  浏览/下载:13/0  |  提交时间:2019/12/05
A case of giant axon neuropathy with unusual brain imagining 会议论文
作者:  Xi, Jianying;  Cai, Shuang;  Lin, Jie;  Liu, Yiqi;  Lu, Jiahong
收藏  |  浏览/下载:5/0  |  提交时间:2019/12/05
Biparental Inheritance of Mitochondrial DNA in Humans 期刊论文
Proceedings of the National Academy of Sciences of the United States of America, 2018, 卷号: 115, 期号: 51, 页码: 13039-13044
作者:  Luo, Shiyu;  Valencia, C. Alexander;  Zhang, Jinglan;  Lee, Ni-Chung;  Slone, Jesse
收藏  |  浏览/下载:10/0  |  提交时间:2019/12/03
Genetic influences on cortical myelination in the human brain 期刊论文
Genes, Brain and Behavior, 2018, 期号: e12537, 页码: 1-7
作者:  Liu Shu;  Li Ang;  Zhu Meifang;  Li Jin;  Liu Bing
收藏  |  浏览/下载:31/0  |  提交时间:2019/05/05
Integrated massively parallel sequencing of 15 autosomal STRs and Amelogenin using a simplified library preparation approach 期刊论文
ELECTROPHORESIS, 2018, 卷号: 39, 期号: 12, 页码: 1466, 1473
作者:  Xue, J;  Wu, RG;  Pan, YJ;  Wang, SX;  Qu, BW
收藏  |  浏览/下载:49/0  |  提交时间:2018/12/29


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