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复旦大学上海医学院 [12]
中国医学科学院 北... [12]
山东大学 [4]
南华大学 [2]
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期刊论文 [43]
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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:25/0
  |  
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
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:20/0
  |  
提交时间:2019/12/05
Non-syndromic hearing loss
targeted next-generation sequencing
GJB2
MT-RNR1
genetic diagnosis
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:7/0
  |  
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
A novel heterozygous large deletion of MSH6 gene in a Chinese family with Lynch syndrome
期刊论文
GENE, 2019, 卷号: 704
作者:
Liu, Yuanyuan
;
Wang, Mingwei
;
Chen, Qiongrong
;
Zheng, Qiaosong
;
Li, Guangyu
收藏
  |  
浏览/下载:12/0
  |  
提交时间:2019/12/05
Novel gene deletion mutation
Targeted next-generation sequencing
Multiplex ligation-dependent probe amplification
Colorectal cancer
Targeted next‐generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis
期刊论文
Molecular Genetics & Genomic Medicine, 2019, 卷号: Vol.7 No.1
作者:
Dan Wang
;
Shengyun Liang
;
Xipeng Zhang
;
Subrata Kumar Dey
;
Yuwei Li
收藏
  |  
浏览/下载:42/0
  |  
提交时间:2019/12/17
APC
gene
Chinese
population
colorectal
cancer
familial
adenomatous
polyposis
single
nucleotide
deletion
targeted
next‐generation
sequencing
Comprehensive genomic profiling of small cell lung cancer in Chinese patients and the implications for therapeutic potential
期刊论文
CANCER MEDICINE, 2019, 卷号: 8, 期号: 9, 页码: 4338-4347
作者:
Hu, Jing
;
Wang, Yu
;
Zhang, Yuan
;
Yu, Yanfei
;
Chen, Hui
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/11
comprehensive genomic profiling
next generation sequencing
small cell
lung cancer
targeted therapy
tumor mutation burden
Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort
期刊论文
2019, 卷号: 7, 期号: 9, 页码: e917
作者:
Khan Amjad
;
Han Shirui
;
Wang Rongrong
;
Ansar Muhammad
;
Ahmad Wasim
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2020/01/03
GJB2
Pakistani Cohort
Targeted Next Generation Sequencing
nonsyndromic hearing loss (NSHL)
Preliminary exploration of potential molecular therapeutic targets in recurrent and metastatic parathyroid carcinomas
期刊论文
2019, 卷号: 144, 期号: 3, 页码: 525-532
作者:
Cui, Ming
;
Hu, Ya
;
Bi, Yalan
;
Wang, Weiwei
;
Wang, Mengyi
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2020/01/03
parathyroid carcinoma
targeted therapies
next-generation sequencing
CDC73
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