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CORC

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Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation. 期刊论文
Frontiers in pharmacology, 2019, 卷号: 10, 期号: FEB, 页码: 85
作者:  Lu, Xiulan;  Chen, Weijian;  Li, Liping;  Zhu, Xinyuan;  Huang, Caizhi
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/27
SMAD6 is frequently mutated in nonsyndromic radioulnar synostosis. 期刊论文
Genetics in medicine : official journal of the American College of Medical Genetics, 2019, 卷号: 21, 期号: 11, 页码: 2577-2585
作者:  Yang, Yongjia*;  Zheng, Yu;  Li, Wangming;  Li, Liping;  Tu, Ming
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/27
Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients. 期刊论文
Orphanet journal of rare diseases, 2019, 卷号: 14, 期号: 1, 页码: 221
作者:  Zhu, Guanghui;  Zheng, Yu;  Liu, Yaoxi;  Yan, An;  Hu, Zhengmao
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/27
Identification of a novel COL4A5 mutation in the proband initially diagnosed as IgAN from a Chinese family with X-linked Alport syndrome 期刊论文
Science China Life Sciences, 2019
作者:  Li, Z.*;  Zhu, P.;  Huang, H.;  Pan, Y.;  Han, P.
收藏  |  浏览/下载：18/0  |  提交时间：2019/12/27
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders 期刊论文
American Journal of Human Genetics, 2019, 卷号: 105, 期号: 1, 页码: 166-176
作者:  Tian, Yun;  Wang, Jun-Ling;  Huang, Wen;  Zeng, Sheng;  Jiao, Bin
收藏  |  浏览/下载：21/0  |  提交时间：2019/12/27
A Novel Assay Coupling Dephosphorylation and Blue/White Colony Screening for the G > A Hotspot Mutation at Codon 13 of KRAS Gene 期刊论文
Journal of Nanoscience and Nanotechnology, 2018, 卷号: 18, 期号: 1, 页码: 538-543
作者:  Zhou, Cuilan;  Pu, Wangyang;  Yin, Yu-Fang;  Xiao, Li;  Luo, Dixian
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/27
Assessment of Bacterial Community Composition of Anaerobic Granular Sludge in Response to Short-Term Uranium Exposure 期刊论文
Microbial Ecology, 2018, 卷号: 76, 期号: 3, 页码: 648-659
作者:  Zeng, Taotao*;  Zhang, Shiqi;  Gao, Xiang;  Wang, Guohua;  Lens, Piet N. L.
收藏  |  浏览/下载：10/0  |  提交时间：2019/12/27
A Sensitive Assay Enriched with Blue/White Screening to Empower Sequencing Analysis for G > A Hotspot Mutation in Codon 13 of KRAS Gene 期刊论文
Journal of Nanoscience and Nanotechnology, 2017, 卷号: 17, 期号: 12, 页码: 9176-9181
作者:  Zhou, Cuilan;  Pu, WangYang;  Peng, Cuiying;  Li, Wen;  Xiao, Li
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/27
The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia 期刊论文
Scientific Reports, 2016, 卷号: 6, 页码: 36823
作者:  Jiang, Long;  Wu, Wen-Feng;  Sun, Li-Yuan;  Chen, Pan-Pan;  Wang, Wei
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/27
TP53, PIK3CA, FBXW7 and KRAS Mutations in Esophageal Cancer Identified by Targeted Sequencing. 期刊论文
Cancer Genomics and Proteomics, 2016, 卷号: 13, 期号: 3, 页码: 231-238
作者:  Zheng, Huili;  Wang, Yan*;  Tang, Chuanning;  Jones, Lindsey;  Ye, Hua
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/27

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