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邬玲仟
博士
研究方向: 遗传病诊断、产前诊断综合技术体系研究;遗传病无创产前诊断新技术开发及临床适用性研究;生殖细胞基因组结构变... 更多>
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271条记录,
Identification of MicroRNAs in Human Follicular Fluid: Characterization of MicroRNAs That Govern Steroidogenesis in Vitro and Are Associated With Polycystic Ovary Syndrome in Vivo
WOS被引频次:115
SCI-EMedline
作者: Sang, Qing;Yao, Zhongyuan;Wang, Huan;Feng, Ruizhi;Wang, Haojue;Zhao, Xinzhi;Xing, Qinghe;Jin, Li;He, Lin;Wu, Lingqian*;Wang, Lei
期刊: The Journal of clinical endocrinology and metabolism,2013年98(7):3068-3079 ISSN:0021-972X
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Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing
WOS被引频次:85
SCI-EMedline
作者: Liang, Desheng;Lv, Weigang;Wang, Hua;Xu, Liangpu;Liu, Jing;Li, Haoxian;Hu, Liang;Peng, Ying;Wu, Lingqian*
期刊: Prenatal Diagnosis,2013年33(5):409-415 ISSN:0197-3851
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Constructing a database for the relations between CNV and human genetic diseases via systematic text mining
SCI-ESSCICPCI-SMedline
作者: Yang, Xi;Song, Zhuo;Wu, Chengkun*;Wang, Wei;Li, Gen;Zhang, Wei;Wu, Lingqian*;Lu, Kai*
期刊: BMC Bioinformatics,2018年19(19):528- ISSN:1471-2105
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Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART).
WOS被引频次:33
SCI-EMedline
作者: Lv, Weigang;Wei, Xianda;Guo, Ruolan;Liu, Qin;Zheng, Yu;Chang, Jiazhen;Bai, Ting;Li, Haoxian;Zhang, Jianguang;Song, Zhuo;Cram, David S.;Liang, Desheng;Wu, Lingqian*
期刊: Clinical Chemistry,2015年61(1):172-181 ISSN:0009-9147
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Copy Number Variation Sequencing for Comprehensive Diagnosis of Chromosome Disease Syndromes
WOS被引频次:30
SCI-EMedline
作者: Liang, Desheng;Peng, Ying;Lv, Weigang;Deng, Linbei;Zhang, Yanghui;Li, Haoxian;Yang, Pu;Zhang, Jianguang;Song, Zhuo;Xu, Genming;Cram, David S.;Wu, Lingqian*
期刊: The Journal of molecular diagnostics : JMD,2014年16(5):519-526 ISSN:1525-1578
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TALE nickase mediates high efficient targeted transgene integration at the human multi-copy ribosomal DNA locus
WOS被引频次:27
SCI-EMedline
作者: Wu, Yong;Gao, Tieli;Wang, Xiaolin;Hu, Youjin;Hu, Xuyun;Hu, Zhiqing;Pang, Jialun;Li, Zhuo;Xue, Jinfeng;Feng, Mai;Wu, Lingqian*;Liang, Desheng
期刊: Biochemical and Biophysical Research Communications,2014年446(1):261-266 ISSN:0006-291X
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In situ genetic correction of F8 intron 22 inversion in hemophilia A patient-specific iPSCs
WOS被引频次:18
SCI-EMedline
作者: Wu, Yong;Hu, Zhiqing;Li, Zhuo;Pang, Jialun;Feng, Mai;Hu, Xuyun;Wang, Xiaolin;Lin-Peng, Siyuan;Liu, Bo;Chen, Fangping;Wu, Lingqian*;Liang, Desheng*
期刊: SCIENTIFIC REPORTS,2016年6:18865 ISSN:2045-2322
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Targeting of the Human Coagulation Factor IX Gene at rDNA Locus of Human Embryonic Stem Cells
WOS被引频次:11
SCI-EMedline
作者: Liu, Xionghao*;Wu, Yong;Li, Zhuo;Yang, Junlin;Xue, Jinfeng;Hu, Youjin;Feng, Mai;Niu, Wenbin;Yang, Qiurui;Lei, Ming;Xia, Jiahui;Wu, Lingqian;Liang, Desheng
期刊: PLOS ONE,2012年7(1932-6203):e37071 ISSN:1932-6203
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DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy
WOS被引频次:9
SCI-EMedline
作者: Guo, Ruolan;Zhu, Guosheng;Zhu, Huimin;Ma, Ruiyu;Peng, Ying;Liang, Desheng;Wu, Lingqian*
期刊: Journal of Human Genetics,2015年60(8):435-42 ISSN:1434-5161
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Enhanced tumor growth inhibition by mesenchymal stem cells derived from iPSCs with targeted integration of interleukin24 into rDNA loci.
WOS被引频次:8
SCI-EMedline
作者: Liu, Bo;Chen, Fei;Wu, Yong;Wang, Xiaolin;Feng, Mai;Li, Zhuo;Zhou, Miaojin;Wang, Yanchi;Wu, Lingqian;Liu, Xionghao*;Liang, Desheng*
期刊: Oncotarget,2017年8(25):40791-40803
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A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus
WOS被引频次:8
SCI-EMedline
作者: Hu, Junjie;Liang, Desheng;Xue, Jinjie;Liu, Jing;Wu, Lingqian*
期刊: MOLECULAR VISION,2011年17:715-722 ISSN:1090-0535
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Targeted next-generation sequencing identifies novel compound heterozygous mutations of DYNC2H1 in a fetus with short rib-polydactyly syndrome, type III
WOS被引频次:8
SCI-EMedline
作者: Mei, Libin;Huang, Yanru;Pan, Qian;Su, Wei;Quan, Yi;Liang, Desheng*;Wu, Lingqian
期刊: Clinica Chimica Acta,2015年447:47-51 ISSN:0009-8981
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Cryptic FMR1 mosaic deletion in a phenotypically normal mother of a boy with fragile X syndrome: case report
WOS被引频次:8
SCI-EMedline
作者: Luo, Shiyu;Huang, Wen;Xia, Qiuping;Xia, Yan;Du, Qian;Wu, Lingqian*;Duan, Ranhui
期刊: BMC Medical Genetics,2014年15(1):125 ISSN:1471-2350
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A non-viral vector for potential DMD gene therapy study by targeting a minidystrophin-GFP fusion gene into the hrDNA locus
WOS被引频次:6
SCI-EMedlineCSCD
作者: Yang, Junlin;Liu, Xionghao;Yu, Jiaoling;Sheng, Liang;Shi, Yan;Li, Zhuo;Hu, Youjin;Xue, Jinfeng;Wu, Lingqian;Liang, Yu;Xia, Jiahui;Liang, Desheng*
期刊: Acta Biochimica et Biophysica Sinica,2009年(12):1053-1060 ISSN:1672-9145
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De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review
WOS被引频次:6
SCI-EMedline
作者: Yang, Pu;Tan, Hu;Xia, Yan;Yu, Qian;Wei, Xianda;Guo, Ruolan;Peng, Ying;Chen, Chen;Li, Haoxian;Mei, Libin;Huang, Yanru;Liang, Desheng;Wu, Lingqian*
期刊: American journal of medical genetics. Part A,2016年170(6):1613-1621 ISSN:1552-4825
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Mutational Analyses of the FMR1 Gene in Chinese Pediatric Population of Fragile X Suspects: Low Tolerance for Point Mutation
WOS被引频次:6
SCI-EMedline
作者: Luo, Shiyu;Huang, Wen;Xia, Qiuping;Du, Qian;Wu, Lingqian;Duan, Ranhui*
期刊: Journal of Child Neurology,2014年30(6):803-806 ISSN:0883-0738
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A novel de novo POGZ mutation in a patient with intellectual disability
WOS被引频次:6
SCI-EMedline
作者: Tan, Bo;Zou, Yongyi;Zhang, Yue;Zhang, Rui;Ou, Jianjun;Shen, Yidong;Zhao, Jingping;Luo, Xiaomei;Guo, Jing;Zeng, Lanlan;Hu, Yiqiao;Zheng, Yu;Pan, Qian;Liang, Desheng*;Wu, Lingqian*
期刊: Journal of Human Genetics,2016年61(4) ISSN:1435-232X
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Eight-Shaped Hatching Increases the Risk of Inner Cell Mass Splitting in Extended Mouse Embryo Culture
WOS被引频次:5
SCI-EMedline
作者: Yan, Zheng;Liang, Hongxing;Deng, Li;Long, Hui;Chen, Hong;Chai, Weiran;Suo, Lun;Xu, Chen;Kuang, Yanping;Wu, Lingqian*;Lu, Shengsheng;Lyu, Qifeng
期刊: PLOS ONE,2015年10(12):e0145172 ISSN:1932-6203
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Phenotypic expansion of the interstitial 16p13.3 duplication: A case report and review of the literature
WOS被引频次:5
SCI-EMedline
作者: Li, Zhuo;Liu, Jing;Li, Haoxian;Peng, Ying;Lv, Weigang;Long, Zhigao;Liang, Desheng*;Wu, Lingqian
期刊: Gene,2013年531(2):502-5 ISSN:0378-1119
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Chromosomal analysis of blastocysts from balanced chromosomal rearrangement carriers
WOS被引频次:5
SCI-EMedline
作者: Gui, Baoheng;Yao, Zhongyuan;Li, Yanping;Liu, Donge;Liu, Nenghui;Xia, Yan;Huang, Yanru;Mei, Libin;Ma, Ruiyu;Lu, Sijia;Liang, Desheng;Wu, Lingqian*
期刊: Reproduction (Cambridge, England),2016年151(4):455-464 ISSN:1470-1626
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