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CORC

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A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability 期刊论文
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 卷号: 179, 期号: 6
作者:  Zhang, Ling;  Xu, Ximing;  Sun, Kaiqiang;  Sun, Jingchuan;  Wang, Yuan
收藏  |  浏览/下载：26/0  |  提交时间：2019/12/05
Mutations of ARX and non-syndromic intellectual disability in Chinese population. 期刊论文
Genes & genomics, 2019, 卷号: 41, 页码: 125-131
作者:  Wu Yufei;  Zhang Huan;  Liu Xiaofen;  Shi Zhangyan;  Li Hongling
收藏  |  浏览/下载：23/0  |  提交时间：2019/11/19
ABCC9-related Intellectual disability Myopathy Syndrome is a K-ATP channelopathy with loss-of-function mutations in ABCC9 期刊论文
NATURE COMMUNICATIONS, 2019, 卷号: 10
作者:  Smeland, Marie F.;  McClenaghan, Conor;  Roessler, Helen I.;  Savelberg, Sanne;  Hansen, Geir Asmund Myge
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/05
Diagnosis of intellectual disability/global developmental delay via genetic analysis in a central region of China 期刊论文
CHINESE MEDICAL JOURNAL, 2019, 卷号: 132, 期号: 13
作者:  Liao, Li-Hong;  Chen, Chen;  Peng, Jing;  Wu, Li-Wen;  He, Fang
收藏  |  浏览/下载：15/0  |  提交时间：2019/12/05
EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway 期刊论文
HUMAN GENOMICS, 2019, 卷号: 13, 期号: 1, 页码: -
作者:  Wu, J;  Yang, Y;  He, Y;  Li, Q;  Wang, X
收藏  |  浏览/下载：21/0  |  提交时间：2020/10/16
Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature 期刊论文
BMC MEDICAL GENOMICS, 2018, 卷号: 11
作者:  Xu, Qiong;  Li, Chun-yang;  Wang, Yi;  Li, Hui-ping;  Wu, Bing-bing
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/05
Performance of the Autism Spectrum Rating Scale and Social Responsiveness Scale in Identifying Autism Spectrum Disorder Among Cases of Intellectual Disability 期刊论文
NEUROSCIENCE BULLETIN, 2018, 卷号: 34, 期号: 6
作者:  Li, Chunpei;  Zhou, Hao;  Wang, Tianqi;  Long, Shasha;  Du, Xiaonan
收藏  |  浏览/下载：17/0  |  提交时间：2019/12/05
A Novel MYCN Variant Associated with Intellectual Disability Regulates Neuronal Development 期刊论文
NEUROSCIENCE BULLETIN, 2018, 卷号: 34, 期号: 5
作者:  Yu, Xiuya;  Hu, Liyuan;  Liu, Xu;  Zhan, Guodong;  Mei, Mei
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/05
Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review 期刊论文
JOURNAL OF INTERNATIONAL MEDICAL RESEARCH, 2018, 卷号: 46, 期号: 6
作者:  Liu, Zhenlei;  Liu, Jiaqi;  Liu, Gang;  Cao, Wenjian;  Liu, Sen
收藏  |  浏览/下载：19/0  |  提交时间：2019/12/05
Phf8 histone demethylase deficiency causes cognitive impairments through the mTOR pathway 期刊论文
NATURE COMMUNICATIONS, 2018, 卷号: 9, 期号: 1, 页码: 114
作者:  Chen, Xuemei;  Wang, Shuai;  Zhou, Ying;  Han, Yanfei;  Li, Shengtian
收藏  |  浏览/下载：43/0  |  提交时间：2019/04/28

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