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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：27/0  |  提交时间：2019/12/05
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
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
INTELLECTUAL DISABILITY AND OVER-GROWTH -- A CASE CAUSED BY NOVEL MUTATION OF NFIX GENE BASED ON WHOLE-EXON SEQUENCING 会议论文
作者:  Lu, Wei;  Wu, Bing-Bing;  Zhang, Ping;  Wang, Hui-Jun;  Yang, Lin
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/05
Intellectual disability and overgrowth-a case caused by novel mutation of NFIX gene based on whole-exon sequencing 期刊论文
Endocrine Reviews, 2017, 卷号: 38
作者:  Lu W., Wu B.-B., Zhang P., Wang H.-J., Yang L., Zhou W.-H., Luo F.-H.
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/05
Experimental Tools for the Identification of Specific Genes in Autism Spectrum Disorders and Intellectual Disability 图书章节
2016
作者:  Shen, Yiping/22958805200[0];  Gong, Xiaohong/54792843500[1]
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/05
Differentiating low- and high-functioning children with autism spectrum disorder, children with intellectual disability, and typically developing children in a Chinese population 期刊论文
JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY, 2015, 卷号: 40, 期号: 2
作者:  Layton, Thomas L.;  Hao, Grace;  Zou, Xiaobing;  Li, Ling;  Shao, Zhi
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/19

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