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科研机构
复旦大学上海医学院 [32]
内容类型
期刊论文 [32]
发表日期
2019 [8]
2018 [6]
2017 [8]
2016 [4]
2015 [3]
2014 [1]
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专题:复旦大学上海医学院
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Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing
期刊论文
BMC NEUROLOGY, 2019, 卷号: 19
作者:
Dou, Tonghai
;
Luo, Sushan
;
Xu, Minjie
;
Sun, Jian
;
Qiao, Kai
收藏
  |  
浏览/下载:23/0
  |  
提交时间:2019/12/05
Primary periodic paralysis
Targeted next-generation sequencing
Gene panel
Gene mutation distribution
Calcium homeostasis
Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population
期刊论文
FRONTIERS IN GENETICS, 2019, 卷号: 10
作者:
Zhang, Jing
;
Wu, Dan
;
Li, Yue
;
Fan, Yidan
;
Chen, Huiyu
收藏
  |  
浏览/下载:27/0
  |  
提交时间:2019/12/05
corneal dystrophies
next-generation sequencing
targeted-region sequencing
Han Chinese population
mutations
Design of a Targeted Sequencing Assay to Detect Rare Mutations in Circulating Tumor DNA
期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2019, 卷号: 23, 期号: 4
作者:
Chen, Jianxia
;
Chen, Jun
;
He, Fusheng
;
Huang, Yiqiong
;
Lu, Shan
收藏
  |  
浏览/下载:31/0
  |  
提交时间:2019/12/05
circulating tumor DNA
liquid biopsy
target region sequencing
renal cell carcinoma
breast cancer
Identification of causative variants in patients with non-syndromic hearing loss in the Minnan region, China by targeted next-generation sequencing
期刊论文
ACTA OTO-LARYNGOLOGICA, 2019, 卷号: 139, 期号: 3
作者:
Han, Peng
;
Wu, Xiaohui
;
Gao, Xingqiang
;
Zhou, Yulin
收藏
  |  
浏览/下载:19/0
  |  
提交时间:2019/12/05
Non-syndromic hearing loss
targeted next-generation sequencing
GJB2
MT-RNR1
genetic diagnosis
Molecular profiling of the biphasic components of hepatic carcinosarcoma by the use of targeted next-generation sequencing
期刊论文
HISTOPATHOLOGY, 2019, 卷号: 74, 期号: 6
作者:
Bai, Qianming
;
Xu, Yifan
;
Wang, Wei
;
Chen, Lingli
;
Han, Jing
收藏
  |  
浏览/下载:36/0
  |  
提交时间:2019/12/05
copy number alterations
hepatic carcinosarcoma (HCS)
monoclonal origin
mutations
next-generation sequencing (NGS)
Pathogenic and Targetable Genetic Alterations in Resected Recurrent Undifferentiated Pleomorphic Sarcomas Identified by Targeted Next-generation Sequencing
期刊论文
CANCER GENOMICS & PROTEOMICS, 2019, 卷号: 16, 期号: 3
作者:
Zheng, Biqiang
;
Qu, Yueting
;
Wang, Jian
;
Shi, Yingqiang
;
Yan, Wangjun
收藏
  |  
浏览/下载:16/0
  |  
提交时间:2019/12/05
Soft tissue sarcoma
undifferentiated pleomorphic sarcoma
next generation sequencing
NGS
recurrence
targetable genetic alterations
Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia
期刊论文
TRANSLATIONAL NEURODEGENERATION, 2019, 卷号: 8
作者:
Wei, Qiao
;
Dong, Hai-Lin
;
Pan, Li-Ying
;
Chen, Cong-Xin
;
Yan, Yang-Tian
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2019/12/05
Hereditary spastic paraplegia
Autosomal recessive
Targeted next-generation sequencing
Chinese
Genetic spectrum
Phenotype
Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing
期刊论文
CNS NEUROSCIENCE & THERAPEUTICS, 2019, 卷号: 25, 期号: 1
作者:
Dong, Hai-Lin
;
Ma, Yin
;
Li, Quan-Fu
;
Du, Yi-Chu
;
Yang, Lu
收藏
  |  
浏览/下载:15/0
  |  
提交时间:2019/12/05
ataxia
Chinese
mitochondria
targeted next-generation sequencing
Targeted sequencing reveals distinct pathogenic variants in Chinese patients with lung adenocarcinoma brain metastases
期刊论文
ONCOLOGY LETTERS, 2018, 卷号: 15, 期号: 4
作者:
Ma, Yanchun
;
Chen, Kun
;
Yang, Zhenhua
;
Guan, Ming
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2019/12/05
gene mutations
brain metastases
lung adenocarcinoma
next-generation sequencing
targeted therapy
A regulatory mutant on TRIM26 conferring the risk of nasopharyngeal carcinoma by inducing low immune response
期刊论文
CANCER MEDICINE, 2018, 卷号: 7, 期号: 8
作者:
Lyu, Xiao-Ming
;
Zhu, Xiao-Wei
;
Zhao, Manli
;
Zuo, Xian-Bo
;
Huang, Zhong-Xi
收藏
  |  
浏览/下载:11/0
  |  
提交时间:2019/12/05
immune response
nasopharyngeal carcinoma
single-nucleotide polymorphisms
targeted MHC sequencing
TRIM26
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