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Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation 期刊论文
MOLECULAR AUTISM, 2017
Wen, Zhu; Cheng, Tian-Lin; Li, Gai-Zhi; Sun, Shi-Bang; Yu, Shun-Ying; Zhang, Yi; Du, Ya-Song; Qiu, Zilong
收藏  |  浏览/下载：117/0  |  提交时间：2017/12/03
Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations 期刊论文
HUMAN MUTATION, 2017
Dou, Yanmei; Yang, Xiaoxu; Li, Ziyi; Wang, Sheng; Zhang, Zheng; Ye, Adam Yongxin; Yan, Linlin; Yang, Changhong; Wu, Qixi; Li, Jiarui; Zhao, Boxun; Huang, August Yue; Wei, Liping
收藏  |  浏览/下载：121/0  |  提交时间：2017/12/03
MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples 期刊论文
NUCLEIC ACIDS RESEARCH, 2017
Huang, August Yue; Zhang, Zheng; Ye, Adam Yongxin; Dou, Yanmei; Yan, Linlin; Yang, Xiaoxu; Zhang, Yuehua; Wei, Liping
收藏  |  浏览/下载：6/0  |  提交时间：2017/12/03
Accurately annotate compound effects of genetic variants using a context-sensitive framework 期刊论文
NUCLEIC ACIDS RESEARCH, 2017
Cheng, Si-Jin; Shi, Fang-Yuan; Liu, Huan; Ding, Yang; Jiang, Shuai; Liang, Nan; Gao, Ge
收藏  |  浏览/下载：3/0  |  提交时间：2017/12/03
Efficient in vivo gene editing using ribonucleoproteins in skin stem cells of recessive dystrophic epidermolysis bullosa mouse model 期刊论文
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2017
Wu, Wenbo; Lu, Zhiwei; Li, Fei; Wang, Wenjie; Qian, Nannan; Duan, Jinzhi; Zhang, Yu; Wang, Fengchao; Chen, Ting
收藏  |  浏览/下载：3/0  |  提交时间：2017/12/03
Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy 期刊论文
CLINICAL GENETICS, 2017
Zhang, Q.; Li, J.; Zhao, Y.; Bao, X.; Wei, L.; Wang, J.
收藏  |  浏览/下载：4/0  |  提交时间：2017/12/03
The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population 期刊论文
CLINICAL GENETICS, 2017
Liu, A.; Xu, X.; Yang, X.; Jiang, Y.; Yang, Z.; Liu, X.; Wu, Y.; Wu, X.; Wei, L.; Zhang, Y.
收藏  |  浏览/下载：8/0  |  提交时间：2017/12/04
A branch-migration based fluorescent probe for straightforward, sensitive and specific discrimination of DNA mutations 期刊论文
NUCLEIC ACIDS RESEARCH, 2017
Xiao, Xianjin; Wu, Tongbo; Xu, Lei; Chen, Wei; Zhao, Meiping
收藏  |  浏览/下载：103/0  |  提交时间：2017/12/03
Association of oligodendrocytes differentiation regulator gene DUSP15 with autism 期刊论文
WORLD JOURNAL OF BIOLOGICAL PSYCHIATRY, 2017
Tian, Ye; Wang, Lifang; Jia, Meixiang; Lu, Tianlan; Ruan, Yanyan; Wu, Zhiliu; Wang, Linyan; Liu, Jing; Zhang, Dai
收藏  |  浏览/下载：7/0  |  提交时间：2017/12/03
Arabidopsis atypical kinase ABC1K1 is involved in red light-mediated development 期刊论文
PLANT CELL REPORTS, 2016
Yang, Mei; Huang, Hao; Zhang, Caiguo; Wang, Zhi; Su, Yan' Zhu, Pan; Guo, Yan; Deng, Xing Wang; e
收藏  |  浏览/下载：3/0  |  提交时间：2017/12/03

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