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High chromosome instability identified by low-pass whole-genome sequencing assay is associated with TP53 copy loss and worse prognosis in BRCA1 germline mutation breast cancer 期刊论文
BREAST CANCER, 2021
作者:  Zhu, Liang;  Pan, Jia-Ni;  Qian, Ziliang;  Ye, Wei-Wu;  Wang, Xiao-Jia
收藏  |  浏览/下载:23/0  |  提交时间:2021/09/06
CIN  TP53  BRCA1  LPWGS  Breast cancer  
Taxonomy, virulence genes and antimicrobial resistance of Aeromonas isolated from extra-intestinal and intestinal infections. 期刊论文
BMC infectious diseases, 2019, 卷号: Vol.19 No.1, 页码: 158
作者:  Yanyan Zhou;  Li Yu;  Zheng Nan;  Pingping Zhang;  Biao Kan
收藏  |  浏览/下载:9/0  |  提交时间:2019/12/17
Taxonomy, virulence genes and antimicrobial resistance of Aeromonas isolated from extra-intestinal and intestinal infections 期刊论文
BMC Infectious Diseases, 2019, 卷号: Vol.19 No.1
作者:  Yanyan Zhou;  Li Yu;  Zheng Nan;  Pingping Zhang;  Biao Kan
收藏  |  浏览/下载:11/0  |  提交时间:2019/12/17
Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants. 期刊论文
Metabolic brain disease, 2019
作者:  Yousheng Yan;  Chuan Zhang;  Xiaohua Jin;  Qinhua Zhang;  Lei Zheng
收藏  |  浏览/下载:12/0  |  提交时间:2019/12/17
Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants 期刊论文
2019, 卷号: 34, 期号: 3, 页码: 733-745
作者:  Yan, Yousheng;  Zhang, Chuan;  Jin, Xiaohua;  Zhang, Qinhua;  Zheng, Lei
收藏  |  浏览/下载:7/0  |  提交时间:2020/01/03
Identification of gross deletions in FBN1 gene by MLPA 期刊论文
2018, 卷号: 12, 期号: 1, 页码: 46
作者:  Yang, Hang;  Ma, Yanyun;  Luo, Mingyao;  Zhao, Kun;  Zhang, Yinhui
收藏  |  浏览/下载:4/0  |  提交时间:2020/01/03
Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome 期刊论文
2017, 卷号: 474, 页码: 54-59
作者:  Li, Jiacheng;  Wu, Wei;  Lu, Chaoxia;  Liu, Yaping;  Wang, Rongrong
收藏  |  浏览/下载:4/0  |  提交时间:2020/01/03
A high-throughput method to detect RNA profiling by integration of RT-MLPA with next generation sequencing technology 期刊论文
2017, 卷号: 8, 期号: 28, 页码: 46071-46080
作者:  Wang Jing;  Yang Xue;  Chen Haofeng;  Wang Xuewei;  Wang Xiangyu
收藏  |  浏览/下载:3/0  |  提交时间:2020/01/04
An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis 期刊论文
2017, 卷号: 10, 页码: 215
作者:  Dai, Yi;  Ma, Yaling;  Li, Shengde;  Banerjee, Santasree;  Liang, Shengran
收藏  |  浏览/下载:4/0  |  提交时间:2020/01/04
[Molecular Features of SMA-related Genes in Spinal Muscular Atrophy Patients of Han Nationality in Southwest China.] 期刊论文
Sichuan Da Xue Xue Bao Yi Xue Ban, 2016, 卷号: Vol.47 No.6, 页码: 936-940
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收藏  |  浏览/下载:4/0  |  提交时间:2019/03/05
MLPA  NAIP  gene  SMA  SMN  gene  


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