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浏览/检索结果: 共9条，第1-9条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 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 Congenital insensitivity to pain with anhidrosis  genetics  intellectual disability  neurotrophic tyrosine receptor kinase 1  north Han Chinese  in silico analysis   Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis 期刊论文 MOLECULAR PAIN, 2018, 卷号: 14 作者:  Geng, Xingzhu;  Liu, Yanshan;  Ren, XiuZhi;  Guan, Yun;  Wang, Yanzhou 收藏  |  浏览/下载：5/0  |  提交时间：2019/12/11 Congenital insensitivity to pain with anhidrosis  NTRK1  gross deletion  deep intronic mutation   Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis 期刊论文 2018, 卷号: 14, 页码: 1744806918781140 作者:  Geng, Xingzhu;  Liu, Yanshan;  Ren, XiuZhi;  Guan, Yun;  Wang, Yanzhou 收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03 Congenital insensitivity to pain with anhidrosis  NTRK1  gross deletion  deep intronic mutation   Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review 期刊论文 2018, 卷号: 46, 期号: 6, 页码: 2445-2457 作者:  Liu, Zhenlei;  Liu, Jiaqi;  Liu, Gang;  Cao, Wenjian;  Liu, Sen 收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03 Congenital insensitivity to pain with anhidrosis  genetics  intellectual disability  neurotrophic tyrosine receptor kinase 1  north Han Chinese  in silico analysis   [Mutation analysis of NTRK1 gene in a family affected with congenital insensitivity to pain with anhidrosis]. 期刊论文 2017, 卷号: 34, 期号: 5 作者:  Li, Bingxiao[1];  Zhang, Zhanhui;  Wu, Xia;  Chen, Wenchao;  Chen, Jianling 收藏  |  浏览/下载：5/0  |  提交时间：2019/12/13 一个先天性无痛无汗症家系的NTRK1基因致病突变分析 Mutation analysis of NTRK1 gene in a family affected with congenital insensitivity to pain with anhidrosis 期刊论文 2017, 卷号: 34, 期号: 5, 页码: 646 作者:  李冰肖;  张占会;  吴瑕;  陈文超;  陈建伶 收藏  |  浏览/下载：2/0  |  提交时间：2019/12/10 先天性无痛无汗症  NTRK1基因  基因分析  新突变   Recurrent and novel mutations in the NTRK1 gene lead to rare congenital insensitivity to pain with anhidrosis in two Chinese patients 期刊论文 2017, 卷号: 468, 页码: 39-45 作者:  Lv Fang;  Xu Xiao-Jie;  Song Yu-Wen;  Li Lu-Jiao;  Wang Ou 收藏  |  浏览/下载：7/0  |  提交时间：2020/01/04 CIPA  Painless fractures  Charcot arthropathy  NTRK1  Novel mutation   Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis 期刊论文 2015, 卷号: 30, 期号: 10, 页码: 1357-1361 作者:  Liu, Sen;  Wu, Nan;  Liu, Jiaqi;  Ming, Xuan;  Chen, Jun 收藏  |  浏览/下载：4/0  |  提交时间：2020/01/13 neurotrophic tyrosine kinase receptor 1 (NTRK1)  nerve growth factor beta (NGFB)  Necdin (NDN)  congenital insensitivity to pain with anhidrosis   360 degrees fusion for Charcot spine caused by congenital insensitivity to pain with anhidrosis 期刊论文 2013, 卷号: 126, 期号: 20, 页码: 3988-3989 作者:  Feng Bin;  Tian Ye;  Qiu Gui-xing;  Weng Xi-sheng;  Jiang Yu 收藏  |  浏览/下载：3/0  |  提交时间：2020/01/13 congenital insensitivity to pain with anhidrosis  surgical treatment  360 degree fusion  Charcot spine