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CORC

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Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family (vol 11, 18, 2018) 期刊论文
MOLECULAR CYTOGENETICS, 2018, 卷号: 11
作者:  Zhang, Kaihui;  Huang, Yan;  Dong, Rui;  Yang, Yali;  Wang, Ying
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11
16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability 期刊论文
2018, 卷号: 8, 期号: 11
作者:  Li, Wen[1,2];  Wang, Yifan[1,2];  Li, Bin[1,2];  Tang, Bin[1,2];  Sun, Hui[1,2]
收藏  |  浏览/下载：19/0  |  提交时间：2019/12/17
Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family 期刊论文
MOLECULAR CYTOGENETICS, 2018, 卷号: 11
作者:  Zhang Kaihui;  Huang Yan;  Dong Rui;  Yang Yali;  Wang Ying
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11
Identification of 11 potentially relevant gene mutations involved in growth retardation, intellectual disability, joint contracture, and hepatopathy 期刊论文
2018, 卷号: 97, 期号: 46
作者:  Diao, Hongyan[1];  Zhu, Peng[3];  Dai, Yong[2];  Chen, Wenbiao[1]
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/23
ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation 期刊论文
2018, 卷号: 19, 期号: 1, 页码: 9
作者:  Wang, Jing-Yang[1,2,3,4];  Zhou, Peng[1,2,3,4];  Wang, Jie[1,2,3,4];  Tang, Bin[1,2,3,4];  Su, Tao[1,2,3,4]
收藏  |  浏览/下载：14/0  |  提交时间：2019/12/06
A Novel MYCN Variant Associated with Intellectual Disability Regulates Neuronal Development. 期刊论文
Neuroscience bulletin, 2018
作者:  Yu Xiuya;  Hu Liyuan;  Liu Xu;  Zhan Guodong;  Mei Mei
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/26
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype 期刊论文
HUMAN MUTATION, 2017, 卷号: 38, 期号: 12
作者:  Chen, Li;  Jensik, Philip J.;  Alaimo, Joseph T.;  Walkiewicz, Magdalena;  Berger, Seth
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05
Isolated chromosome 8p23.2-pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders 期刊论文
2017, 卷号: 16, 期号: 5, 页码: 6837
作者:  Shi, Shanshan[1];  Lin, Shaobin[2];  Chen, Baojiang[2];  Zhou, Yi[2]
收藏  |  浏览/下载：8/0  |  提交时间：2019/12/13
Prenatal, Perinatal and Neonatal Risk Factors for Intellectual Disability: A Systemic Review and Meta-Analysis 期刊论文
PLOS ONE, 2016, 页码: 2016
作者:  Jichong Huang;  Tingting Zhu;  Yi Qu;  Dezhi Mu
收藏  |  浏览/下载：8/0  |  提交时间：2019/02/25
Accelerated Adoption of Advanced Health Information Technology in Beacon Community Health Centers 期刊论文
JABFM, 2015, 卷号: Vol.28 No.5, 页码: 565-575
作者:  EmilyJones;  MichaelWittie
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/30

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