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华南理工大学 [3]
北京大学 [2]
复旦大学上海医学院 [2]
清华大学 [1]
四川大学 [1]
中国医学科学院 北京... [1]
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期刊论文 [8]
会议 [1]
会议论文 [1]
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2019 [1]
2018 [1]
2016 [2]
2015 [2]
2013 [1]
2010 [1]
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Phenotypic Characterization of Very Early-Onset Inflammatory Bowel Disease with Interleukin-10 Signaling Deficiency: Based on a Large Cohort Study
期刊论文
INFLAMMATORY BOWEL DISEASES, 2019, 卷号: 25, 期号: 4
作者:
Zheng, Cuifang
;
Huang, Ying
;
Hu, Wenhui
;
Shi, Jieru
;
Ye, Ziqing
收藏
  |  
浏览/下载:35/0
  |  
提交时间:2019/12/05
very-early-onset inflammatory bowel disease
IL10
IL10R
monogenic disease
Infantile Onset Intractable Inflammatory Bowel Disease Due to Novel Heterozygous Mutations in TNFAIP3 (A20)
期刊论文
INFLAMMATORY BOWEL DISEASES, 2018, 卷号: 24, 期号: 12
作者:
Zheng, Cuifang
;
Huang, Ying
;
Ye, Ziqing
;
Wang, Yuhuan
;
Tang, Zifei
收藏
  |  
浏览/下载:19/0
  |  
提交时间:2019/12/05
infantile-onset inflammatory bowel disease
TNFAIP3 (A20)
monogenic disease
Clinical applications of MARSALA for preimplantation genetic diagnosis of spinal muscular atrophy
期刊论文
JOURNAL OF GENETICS AND GENOMICS, 2016
Ren, Yixin
;
Zhi, Xu
;
Zhu, Xiaohui
;
Huang, Jin
;
Lian, Ying
;
Li, Rong
;
Jin, Hongyan
;
Zhang, Yan
;
Zhang, Wenxin
;
Nie, Yanli
;
Wei, Yuan
;
Liu, Zhaohui
;
Song, Donghong
;
Liu, Ping
;
Qiao, Jie
;
Yan, Liying
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2017/12/04
Preimplantation genetic diagnosis
Spinal muscular atrophy
Next-generation sequencing
Mutated allele revealed by sequencing with aneuploidy and linkage analyses
MONOGENIC DISEASES
LIVE BIRTHS
PGD
AMPLIFICATION
DISORDERS
EMBRYOS
CARRIER
UPDATE
ISSUES
SMN1
A Forward Look At Noninvasive Prenatal Testing
期刊论文
Trends in Molecular Medicine, 2016, 卷号: Vol.22 No.11, 页码: 958-968
作者:
Liu, L.
;
Li, K.
;
Fu, X.
;
Chung, C.
;
Zhang, K.
收藏
  |  
浏览/下载:13/0
  |  
提交时间:2019/02/25
allele
aneuploidy
cfDNA
monogenic
diseases
subchromosomal
Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses
期刊论文
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2015
Yan, Liying
;
Huang, Lei
;
Xu, Liya
;
Huang, Jin
;
Ma, Fei
;
Zhu, Xiaohui
;
Tang, Yaqiong
;
Liu, Mingshan
;
Lian, Ying
;
Liu, Ping
;
Li, Rong
;
Lu, Sijia
;
Tang, Fuchou
;
Qiao, Jie
;
Xie, X. Sunney
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2017/12/03
monogenic diseases
chromosome abnormality
IVF
PGD
MALBAC
PREIMPLANTATION GENETIC DIAGNOSIS
GENOME AMPLIFICATION
HUMAN BLASTOCYSTS
REAL-TIME
IN-VITRO
ANEUPLOIDY
EMBRYOS
PGD
DISORDERS
CELLS
Clinical Considerations of Preimplantation Genetic Diagnosis for Monogenic Diseases
期刊论文
PLOS ONE, 2015, 卷号: 10
作者:
Hu, Xiaokun
;
Wang, Jing
;
Li, Yubin
;
Wang, Yizi
;
Ding, Chenhui
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2019/04/25
Translating the Genomics Revolution: The Need for an International Gene Therapy Consortium for Monogenic Diseases
期刊论文
2013, 卷号: 21, 期号: 2, 页码: 266-268
作者:
Tremblay, Jacques P.
;
Xiao, Xiao
;
Aartsma-Rus, Annemieke
;
Barbas, Carlos
;
Blaus, Helen M.
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2020/01/13
Sequence-based prioritization of nonsynonymous single-nucleotide polymorphisms for the study of disease mutations
期刊论文
2010, 2010
Jiang, Rui
;
Yang, Hua
;
Zhou, Linqi
;
Kuo, C.-C. Jay
;
Sun, Fengzhu
;
Chen, Ting
收藏
  |  
浏览/下载:6/0
A novel preimplantation genetic diagnosis method for monogenic diseases by targeted sequencing (CPCI-S收录)
会议
作者:
Li, J.[1]
;
Zhang, X. D.[1]
;
Xu, Y. W.[2]
;
Liu, S. J.[1]
;
Huang, Y. L.[1]
收藏
  |  
浏览/下载:10/0
  |  
提交时间:2019/04/11
preimplantation genetic diagnosis (PGD)
targeted sequencing
massively parallel sequencing (MPS)
haplotype linkage analysis
direct mutation detection
The applicability of targeted capture and massively parallel sequencing in preimplantation genetic diagnosis for monogenic diseases (CPCI-S收录)
会议论文
HUMAN REPRODUCTION
作者:
Du, Y. T.[1]
;
Li, J.[2]
;
Zhang, X. D.[2]
;
Li, J. L.[2]
;
Liu, S. J.[2]
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2019/04/12
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