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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]
华南理工大学 [1]
中国医学科学院 北京... [1]
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期刊论文 [8]
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内容类型:期刊论文
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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:36/0
  |  
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
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