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Phenotypic Characterization of Very Early-Onset Inflammatory Bowel Disease with Interleukin-10 Signaling Deficiency: Based on a Large Cohort Study 期刊论文
INFLAMMATORY BOWEL DISEASES, 2019, 卷号: 25, 期号: 4
作者:  Zheng, Cuifang;  Huang, Ying;  Hu, Wenhui;  Shi, Jieru;  Ye, Ziqing
收藏  |  浏览/下载:35/0  |  提交时间:2019/12/05
Infantile Onset Intractable Inflammatory Bowel Disease Due to Novel Heterozygous Mutations in TNFAIP3 (A20) 期刊论文
INFLAMMATORY BOWEL DISEASES, 2018, 卷号: 24, 期号: 12
作者:  Zheng, Cuifang;  Huang, Ying;  Ye, Ziqing;  Wang, Yuhuan;  Tang, Zifei
收藏  |  浏览/下载:19/0  |  提交时间:2019/12/05
Clinical applications of MARSALA for preimplantation genetic diagnosis of spinal muscular atrophy 期刊论文
JOURNAL OF GENETICS AND GENOMICS, 2016
Ren, Yixin; Zhi, Xu; Zhu, Xiaohui; Huang, Jin; Lian, Ying; Li, Rong; Jin, Hongyan; Zhang, Yan; Zhang, Wenxin; Nie, Yanli; Wei, Yuan; Liu, Zhaohui; Song, Donghong; Liu, Ping; Qiao, Jie; Yan, Liying
收藏  |  浏览/下载:4/0  |  提交时间:2017/12/04
A Forward Look At Noninvasive Prenatal Testing 期刊论文
Trends in Molecular Medicine, 2016, 卷号: Vol.22 No.11, 页码: 958-968
作者:  Liu, L.;  Li, K.;  Fu, X.;  Chung, C.;  Zhang, K.
收藏  |  浏览/下载:13/0  |  提交时间:2019/02/25
Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses 期刊论文
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2015
Yan, Liying; Huang, Lei; Xu, Liya; Huang, Jin; Ma, Fei; Zhu, Xiaohui; Tang, Yaqiong; Liu, Mingshan; Lian, Ying; Liu, Ping; Li, Rong; Lu, Sijia; Tang, Fuchou; Qiao, Jie; Xie, X. Sunney
收藏  |  浏览/下载:7/0  |  提交时间:2017/12/03
Clinical Considerations of Preimplantation Genetic Diagnosis for Monogenic Diseases 期刊论文
PLOS ONE, 2015, 卷号: 10
作者:  Hu, Xiaokun;  Wang, Jing;  Li, Yubin;  Wang, Yizi;  Ding, Chenhui
收藏  |  浏览/下载:6/0  |  提交时间:2019/04/25
Translating the Genomics Revolution: The Need for an International Gene Therapy Consortium for Monogenic Diseases 期刊论文
2013, 卷号: 21, 期号: 2, 页码: 266-268
作者:  Tremblay, Jacques P.;  Xiao, Xiao;  Aartsma-Rus, Annemieke;  Barbas, Carlos;  Blaus, Helen M.
收藏  |  浏览/下载:2/0  |  提交时间:2020/01/13
Sequence-based prioritization of nonsynonymous single-nucleotide polymorphisms for the study of disease mutations 期刊论文
2010, 2010
Jiang, Rui; Yang, Hua; Zhou, Linqi; Kuo, C.-C. Jay; Sun, Fengzhu; Chen, Ting
收藏  |  浏览/下载:6/0
A novel preimplantation genetic diagnosis method for monogenic diseases by targeted sequencing (CPCI-S收录) 会议
作者:  Li, J.[1];  Zhang, X. D.[1];  Xu, Y. W.[2];  Liu, S. J.[1];  Huang, Y. L.[1]
收藏  |  浏览/下载:10/0  |  提交时间:2019/04/11
The applicability of targeted capture and massively parallel sequencing in preimplantation genetic diagnosis for monogenic diseases (CPCI-S收录) 会议论文
HUMAN REPRODUCTION
作者:  Du, Y. T.[1];  Li, J.[2];  Zhang, X. D.[2];  Li, J. L.[2];  Liu, S. J.[2]
收藏  |  浏览/下载:2/0  |  提交时间:2019/04/12


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