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复旦大学上海医学院 [6]
中国医学科学院 北京... [5]
厦门大学 [4]
山东大学 [3]
北京大学 [2]
中国科学院大学 [1]
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期刊论文 [24]
学位论文 [2]
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2019 [2]
2018 [2]
2017 [1]
2016 [3]
2015 [3]
2014 [4]
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浏览/检索结果:
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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
Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing
期刊论文
FRONTIERS IN PHARMACOLOGY, 2019, 卷号: 10
作者:
Wang, Dong
;
Gao, Min
;
Zhang, Kaihui
;
Jin, Ruifeng
;
Lv, Yuqiang
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2019/12/11
muscular dystrophy
multiplex ligation-dependent probe amplification
next-generation sequencing
dystrophin (DMD)
merosin-deficient
congenital muscular dystrophy type 1A
LAMA2
Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients
期刊论文
JOURNAL OF MOLECULAR MEDICINE-JMM, 2018, 卷号: 96, 期号: 7
作者:
Lu, Cong
;
Li, Li-Xi
;
Dong, Hai-Lin
;
Wei, Qiao
;
Liu, Zhi-Jun
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/05
Hereditary spastic paraplegia
Targeted next-generation sequencing
Multiplex ligation-dependent probe amplification
Novel mutations
Diagnosis
Prognostic significance of copy number alterations detected by multi-link probe amplification of multiple genes in adult acute lymphoblastic leukemia
期刊论文
2018, 卷号: 15, 期号: 4, 页码: 5359-5367
作者:
Fang, Qiuyun
;
Yuan, Tian
;
Li, Yan
;
Feng, Juan
;
Gong, Xiaoyuan
收藏
  |  
浏览/下载:14/0
  |  
提交时间:2020/01/03
adult
acute lymphoblastic leukemia
multiplex ligation-dependent probe amplification
copy number alterations
prognosis
Multiplex ligation-dependent probe amplification assay identifies additional copy number changes compared with R-band karyotype and provide more accuracy prognostic information in myelodysplastic syndromes
期刊论文
2017, 卷号: 8, 期号: 1, 页码: 1603-1612
作者:
Wang, Jingya
;
Ai, Xiaofei
;
Qin, Tiejun
;
Xu, Zefeng
;
Zhang, Yue
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2020/01/03
myelodysplastic syndromes
cytogenetic analysis
multiplex ligation-dependent probe amplification
Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy
期刊论文
BRAIN & DEVELOPMENT, 2016, 卷号: 38, 期号: 2, 页码: 242-249
作者:
Ding, Juan
;
Zhao, Dandan
;
Du, Renqian
;
Zhang, Yuehua
;
Yang, Haipo
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2019/12/16
LAMA2
Limb-girdle muscular dystrophy
The next generation sequencing
Multiplex ligation dependent probe amplification
Array comparative
genomic hybridization
Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy
期刊论文
BRAIN & DEVELOPMENT, 2016, 卷号: 38, 期号: 2
作者:
Ding, Juan
;
Zhao, Dandan
;
Du, Renqian
;
Zhang, Yuehua
;
Yang, Haipo
收藏
  |  
浏览/下载:12/0
  |  
提交时间:2019/12/13
LAMA2
Limb-girdle muscular dystrophy
The next generation sequencing
Multiplex ligation dependent probe amplification
Array comparative genomic hybridization
Detection of copy number variations in pediatric ETV6/RUNX1-positive acute lymphoblastic leukemia with multiplex ligation-dependent probe amplification
期刊论文
2016, 卷号: 18, 期号: 1, 页码: 34-8
作者:
Zhang Li
;
Liu Xiao-Ming
;
Guo Ye
;
Yang Wen-Yu
;
Zhang Jia-Yuan
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2020/01/04
Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature
期刊论文
MOLECULAR CYTOGENETICS, 2015, 卷号: 8
作者:
Wang, Qin[1]
;
Wu, Weiqing[1,2]
;
Xu, Zhiyong[1]
;
Luo, Fuwei[1]
;
Zhou, Qinghua[2,3]
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2019/04/25
Isodicentric chromosome
Ring chromosome
15q11-q13
Array comparative genomic hybridization (aCGH)
Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA)
Analysis of gene mutations in PKD1/PKD2 by multiplex ligation-dependent probe amplification: some new findings
期刊论文
RENAL FAILURE, 2015, 卷号: 37, 期号: 10
作者:
Yu, Guopeng
;
Qian, Xiaoqiang
;
Wu, Yu
;
Li, Xinjuan
;
Chen, Jianhua
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2019/12/19
Autosomal dominant polycystic kidney disease
polycystic kidney disease 1
polycystic kidney disease 2
multiplex ligation-dependent probe amplification
gene
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