QQ客服 官方微博 反馈留言

浏览/检索结果: 共5条，第1-5条 帮助 限定条件 发表日期：2018     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 Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients 期刊论文 EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2018, 卷号: 16, 期号: 2 作者:  Wei, Xiaojing;  Su, Feifei;  Miao, Jing;  Liu, Xuemei;  Yu, Xuefan 收藏  |  浏览/下载：12/0  |  提交时间：2019/12/05 genetic analysis  UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase mutation  quadriceps sparing  muscle atrophy and weakness  muscle biopsy  rimmed vacuoles   Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis 期刊论文 GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 卷号: 22, 期号: 10 作者:  Zhang, Ruixiao;  Wang, Cui;  Lang, Yanhua;  Gao, Yanxia;  Chen, Zeqing 收藏  |  浏览/下载：14/0  |  提交时间：2019/12/05 distal renal tubular acidosis  novel mutation  SLC4A1  ATP6V0A4  ATP6V1B1   GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing 期刊论文 NEUROMUSCULAR DISORDERS, 2018, 卷号: 28, 期号: 2 作者:  Zhu, Wenhua;  Eto, Masaki;  Mitsuhashi, Satomi;  Takata, Kazushiro;  Beck, Goichi 收藏  |  浏览/下载：6/0  |  提交时间：2019/12/05 Distal myopathy with rimmed vacuoles  Hereditary inclusion body myopathy  RNA  Splice   Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis 期刊论文 GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 卷号: 22, 期号: 10, 页码: 599-606 作者:  Zhang, Ruixiao;  Wang, Cui;  Lang, Yanhua;  Gao, Yanxia;  Chen, Zeqing 收藏  |  浏览/下载：16/0  |  提交时间：2019/12/11 distal renal tubular acidosis  novel mutation  SLC4A1  ATP6V0A4  ATP6V1B1   Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families 期刊论文 2018, 卷号: 19, 期号: 1, 页码: 179 作者:  Li, Shan;  You, Yi;  Gao, Jinsong;  Mao, Bin;  Cao, Yixuan 收藏  |  浏览/下载：8/0  |  提交时间：2020/01/03 Distal arthrogryposis  TPM2  PIEZO2  Novel mutation  Genotype-phenotype