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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：请选择发表日期升序发表日期降序提交时间升序提交时间降序题名升序题名降序作者升序作者降序 Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis 期刊论文 CLINICAL NEUROPATHOLOGY, 2019, 卷号: 38, 期号: 3 作者:  Ding, Man;  Wang, Xi;  Zeng, Yanping;  Lu, Zuneng;  Cai, Shuang 收藏  |  浏览/下载：36/0  |  提交时间：2019/12/05 congenital muscular dystrophy  LAMA2  la minin-alpha 2-deficiency  MDC1A   Congenital muscular dystrophies in China 期刊论文 CLINICAL GENETICS, 2019, 卷号: 96, 期号: 3 作者:  Ge, Lin;  Zhang, Cheng;  Wang, Zhaoxia;  Chan, Sophelia H. S.;  Zhu, Wenhua 收藏  |  浏览/下载：35/0  |  提交时间：2019/12/05 congenital muscular dystrophy  nationwide population study  prevalence   Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis 期刊论文 CLINICAL NEUROPATHOLOGY, 2019, 卷号: 38, 期号: 3 作者:  Ding, Man;  Wang, Xi;  Zeng, Yanping;  Lu, Zuneng;  Cai, Shuang 收藏  |  浏览/下载：24/0  |  提交时间：2019/12/05 congenital muscular dystrophy  LAMA2  la minin-alpha 2-deficiency  MDC1A   Congenital muscular dystrophies in China 期刊论文 CLINICAL GENETICS, 2019, 卷号: 96, 期号: 3, 页码: 207-215 作者:  Ge, Lin;  Zhang, Cheng;  Wang, Zhaoxia;  Chan, Sophelia H. S.;  Zhu, Wenhua 收藏  |  浏览/下载：13/0  |  提交时间：2019/12/11 congenital muscular dystrophy  nationwide population study  prevalence   Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing 期刊论文 FRONTIERS IN PHARMACOLOGY, 2019, 卷号: 10 作者:  Wang, Dong;  Gao, Min;  Zhang, Kaihui;  Jin, Ruifeng;  Lv, Yuqiang 收藏  |  浏览/下载：7/0  |  提交时间：2019/12/11 muscular dystrophy  multiplex ligation-dependent probe amplification  next-generation sequencing  dystrophin (DMD)  merosin-deficient  congenital muscular dystrophy type 1A  LAMA2   Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome 期刊论文 NEUROMUSCULAR DISORDERS, 2017, 卷号: 27, 期号: 6 作者:  Luo, Sushan;  Cai, Shuang;  Maxwell, Susan;  Yue, Dongyue;  Zhu, Wenhua 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05 Limb girdle muscular dystrophy  Congenital myasthenic syndrome  GMPPB  Mutation hotspot  Muscle MRI   Genotype/phenotype analysis in Chinese laminin-alpha 2 deficient congenital muscular dystrophy patients 期刊论文 CLINICAL GENETICS, 2015, 卷号: 87, 期号: 3 作者:  Xiong, H.;  Tan, D.;  Wang, S.;  Song, S.;  Yang, H. 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/19 CGH  clinical manifestations  DNA sequencing  LAMA2  MLPA   Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype 期刊论文 SKELETAL MUSCLE, 2015, 卷号: 5 作者:  Liang, Wen-Chen;  Zhu, Wenhua;  Mitsuhashi, Satomi;  Noguchi, Satoru;  Sacher, Michael 收藏  |  浏览/下载：5/0  |  提交时间：2019/12/19 Transport protein particle (TRAPP)  Endoplasmic reticulum-to-Golgi trafficking  Steatosis  Cataract  Congenital muscular dystrophy   A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing 期刊论文 2015, 卷号: 25, 期号: 8, 页码: 617-624 作者:  Dai, Yi;  Wei, Xiaoming;  Zhao, Yanhuan;  Ren, Haitao;  Lan, Zhangzhang 收藏  |  浏览/下载：3/0  |  提交时间：2020/01/13 Muscular dystrophy  Congenital myopathy  Targeted next-generation sequencing  Prospective diagnostic study  Chinese patients' features