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浏览/检索结果: 共18条，第1-10条 帮助 限定条件 发表日期：2015    专题：复旦大学上海医学院    第一署名单位    第一作者单位    通讯作者单位     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 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   Gene mutation profiling of primary glioblastoma through multiple tumor biopsy guided by H-1-magnetic resonance spectroscopy 期刊论文 INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY, 2015, 卷号: 8, 期号: 5 作者:  Tang, Chao;  Guo, Jun;  Chen, Hong;  Yao, Cheng-Jun;  Zhuang, Dong-Xiao 收藏  |  浏览/下载：2/0  |  提交时间：2019/12/13 Mutation profiling  heterogeneity  glioblastoma multiforme  proton magnetic resonance spectroscopy  biopsy   Identification of Two Novel Mutations in Patients With X-Linked Primary Immunodeficiencies 期刊论文 FETAL AND PEDIATRIC PATHOLOGY, 2015, 卷号: 34, 期号: 2 作者:  Yu, Li;  Wang, Xike;  Wang, Yuchuan;  Wang, Jian 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/19 X-linked primary immunodeficiencies  BTK  CYBB  CD40LG  gene mutation   Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients 期刊论文 MOLECULAR GENETICS & GENOMIC MEDICINE, 2015, 卷号: 3, 期号: 6 作者:  Fan, Zi-chuan;  Ni, Jin-wen;  Yang, Lin;  Hu, Li-yuan;  Ma, Si-min 收藏  |  浏览/下载：6/0  |  提交时间：2019/12/19 Clinical diagnosis  congenital hyperinsulinism  mutation spectra   Relationship between gene mutations and protein expressions of PDGFR alpha and C-kit in gastrointestinal stromal tumors 期刊论文 INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE, 2015, 卷号: 8, 期号: 5 作者:  He, Jun-Yi;  Tong, H. X.;  Zhang, Y.;  Wang, J. Y.;  Shao, Y. B. 收藏  |  浏览/下载：2/0  |  提交时间：2019/12/19 GIST  PDGFR alpha  C-kit  gene mutation  Western blot  SSCP   Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome 期刊论文 BMC GASTROENTEROLOGY, 2015, 卷号: 15 作者:  Huang, Zhiheng;  Miao, Shijian;  Wang, Lin;  Zhang, Ping;  Wu, Bingbing 收藏  |  浏览/下载：1/0  |  提交时间：2019/12/19 Peutz-Jeghers syndrome  STK11 gene  Mutation  Mucocutaneous pigmentation  Chinese children   Prognostic role and implications of mutation status of tumor suppressor gene ARID1A in cancer: a systematic review and meta-analysis 期刊论文 ONCOTARGET, 2015, 卷号: 6, 期号: 36 作者:  Luchini, Claudio;  Veronese, Nicola;  Solmi, Marco;  Cho, Hanbyoul;  Kim, Jae-Hoon 收藏  |  浏览/下载：4/0  |  提交时间：2019/12/19 ARID1A  SWI/SNF  chromatin remodeling  targeted therapy  tumor suppressor gene   Identification of HPV Integration and Gene Mutation in HeLa Cell Line by Integrated Analysis of RNA-Seq and MS/MS Data 期刊论文 JOURNAL OF PROTEOME RESEARCH, 2015, 卷号: 14, 期号: 4 作者:  Sun, Han;  Chen, Chen;  Lian, Baofeng;  Zhang, Menghuan;  Wang, Xiaojing 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/19 HeLa  HPV  MS/MS  MRM  proteogenomics  RNA-Seq   Genetic architecture, epigenetic influence and environment exposure in the pathogenesis of Autism 期刊论文 SCIENCE CHINA-LIFE SCIENCES, 2015, 卷号: 58, 期号: 10 作者:  Yu Li;  Wu YiMing;  Wu Bai-Lin 收藏  |  浏览/下载：5/0  |  提交时间：2019/12/19 autism spectrum disorder  genetic architecture  genomic disorder  gene mutation  copy number variants  single nucleotide variants  genetic pathways  epigenetic influence  DNA methylation  chromatin remodeling  long non-coding RNAs  environment exposure  immune dysregulation  gastrointestinal microbiota   Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease 期刊论文 CLINICA CHIMICA ACTA, 2015, 卷号: 451 作者:  Wang, Rui;  He, Jin;  Li, Jin-Jing;  Ni, Wang;  Wu, Zhi-Ying 收藏  |  浏览/下载：1/0  |  提交时间：2019/12/19 Charcot-Marie-Tooth  Clinical feature  Electrophysiological evaluation  Gene mutation