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CORC

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A novel heterozygous large deletion of MSH6 gene in a Chinese family with Lynch syndrome 期刊论文
GENE, 2019, 卷号: 704
作者:  Liu, Yuanyuan;  Wang, Mingwei;  Chen, Qiongrong;  Zheng, Qiaosong;  Li, Guangyu
收藏  |  浏览/下载：12/0  |  提交时间：2019/12/05
Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing 期刊论文
FRONTIERS IN PHARMACOLOGY, 2019, 卷号: 10
作者:  Wang, Dong;  Gao, Min;  Zhang, Kaihui;  Jin, Ruifeng;  Lv, Yuqiang
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/11
Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients 期刊论文
JOURNAL OF MOLECULAR MEDICINE-JMM, 2018, 卷号: 96, 期号: 7
作者:  Lu, Cong;  Li, Li-Xi;  Dong, Hai-Lin;  Wei, Qiao;  Liu, Zhi-Jun
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/05
Prognostic significance of copy number alterations detected by multi-link probe amplification of multiple genes in adult acute lymphoblastic leukemia 期刊论文
2018, 卷号: 15, 期号: 4, 页码: 5359-5367
作者:  Fang, Qiuyun;  Yuan, Tian;  Li, Yan;  Feng, Juan;  Gong, Xiaoyuan
收藏  |  浏览/下载：14/0  |  提交时间：2020/01/03
Multiplex ligation-dependent probe amplification assay identifies additional copy number changes compared with R-band karyotype and provide more accuracy prognostic information in myelodysplastic syndromes 期刊论文
2017, 卷号: 8, 期号: 1, 页码: 1603-1612
作者:  Wang, Jingya;  Ai, Xiaofei;  Qin, Tiejun;  Xu, Zefeng;  Zhang, Yue
收藏  |  浏览/下载：4/0  |  提交时间：2020/01/03
Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy 期刊论文
BRAIN & DEVELOPMENT, 2016, 卷号: 38, 期号: 2, 页码: 242-249
作者:  Ding, Juan;  Zhao, Dandan;  Du, Renqian;  Zhang, Yuehua;  Yang, Haipo
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/16
Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy 期刊论文
BRAIN & DEVELOPMENT, 2016, 卷号: 38, 期号: 2
作者:  Ding, Juan;  Zhao, Dandan;  Du, Renqian;  Zhang, Yuehua;  Yang, Haipo
收藏  |  浏览/下载：12/0  |  提交时间：2019/12/13
Detection of copy number variations in pediatric ETV6/RUNX1-positive acute lymphoblastic leukemia with multiplex ligation-dependent probe amplification 期刊论文
2016, 卷号: 18, 期号: 1, 页码: 34-8
作者:  Zhang Li;  Liu Xiao-Ming;  Guo Ye;  Yang Wen-Yu;  Zhang Jia-Yuan
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/04
Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature 期刊论文
MOLECULAR CYTOGENETICS, 2015, 卷号: 8
作者:  Wang, Qin[1];  Wu, Weiqing[1,2];  Xu, Zhiyong[1];  Luo, Fuwei[1];  Zhou, Qinghua[2,3]
收藏  |  浏览/下载：4/0  |  提交时间：2019/04/25
Analysis of gene mutations in PKD1/PKD2 by multiplex ligation-dependent probe amplification: some new findings 期刊论文
RENAL FAILURE, 2015, 卷号: 37, 期号: 10
作者:  Yu, Guopeng;  Qian, Xiaoqiang;  Wu, Yu;  Li, Xinjuan;  Chen, Jianhua
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/19

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