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浏览/检索结果: 共8条，第1-8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 Why so many published sensitivity analyses are false: A systematic review of sensitivity analysis practices 期刊论文 ENVIRONMENTAL MODELLING & SOFTWARE, 2019, 卷号: 114, 页码: 29-39 作者:  Wu, Qiongli;  Li, Sushan;  Holst, Niels;  Ferretti, Federico;  Fennell, Pamela 收藏  |  浏览/下载：15/0  |  提交时间：2019/06/24 Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes 期刊论文 NEUROLOGY-GENETICS, 2019, 卷号: 5, 期号: 2 作者:  Sun, Chong;  Song, Jie;  Jiang, Yanjun;  Zhao, Chongbo;  Lu, Jiahong 收藏  |  浏览/下载：29/0  |  提交时间：2019/12/05 GNE myopathy in Chinese population: hotspot and novel mutations 期刊论文 JOURNAL OF HUMAN GENETICS, 2019, 卷号: 64, 期号: 1 作者:  Chen, Yang;  Xi, Jianying;  Zhu, Wenhua;  Li, Jie;  Luo, Sushan 收藏  |  浏览/下载：27/0  |  提交时间：2019/12/05 IL-1alpha and IL-1beta promote NOD2-induced immune responses by enhancing MAPK signaling. 期刊论文 Laboratory investigation, a journal of technical methods and pathology, 2019, 卷号: 99, 期号: 9, 页码: 1321-1334 作者:  Li, Sushan;  Deng, Ping*;  Wang, Manzhi;  Liu, Xueting;  Jiang, Manli 收藏  |  浏览/下载：17/0  |  提交时间：2019/12/27 Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb-girdle muscular dystrophy type 2A by muscle magnetic resonance imaging 期刊论文 MUSCLE & NERVE, 2018, 卷号: 58, 期号: 4 作者:  Feng, Xuelin;  Luo, Sushan;  Li, Jing;  Yue, Dongyue;  Xi, Jianying 收藏  |  浏览/下载：9/0  |  提交时间：2019/12/05 diagnostic test  disease monitoring  fatty infiltration  limb-girdle muscular dystrophy type 2A  muscle MRI  selective pattern   Identification of LAMP2 Mutations in Early-Onset Danon Disease With Hypertrophic Cardiomyopathy by Targeted Next-Generation Sequencing 期刊论文 AMERICAN JOURNAL OF CARDIOLOGY, 2016, 卷号: 118, 期号: 6 作者:  Fu, Lijun;  Luo, Sushan;  Cai, Shuang;  Hong, Wenjing;  Guo, Ying 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/06 New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure 期刊论文 NEUROMUSCULAR DISORDERS, 2015, 卷号: 25, 期号: 2 作者:  Yue, Dongyue;  Gao, Mingshi;  Zhu, Wenhua;  Luo, Sushan;  Xi, Jianying 收藏  |  浏览/下载：4/0  |  提交时间：2019/12/13 Hereditary myopathy with early respiratory failure  Rigid spine syndrome  Cytoplasmic body  Muscle magnetic resonance imaging  TTN gene  Haplotype   Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency 期刊论文 JOURNAL OF INHERITED METABOLIC DISEASE, 2014, 卷号: 37, 期号: 3 作者:  Xi, Jianying;  Wen, Bing;  Lin, Jie;  Zhu, Wenhua;  Luo, Sushan 收藏  |  浏览/下载：2/0  |  提交时间：2019/12/19