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中国医学科学院 北... [11]
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期刊论文 [11]
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2019 [1]
2018 [1]
2017 [3]
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专题:中国医学科学院 北京协和医学院
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Novel alanyl-tRNA synthetase 2 (AARS2) homozygous mutation in a consanguineous Chinese family with premature ovarian insufficiency
期刊论文
2019, 卷号: 112, 期号: 3, 页码: 569-+
作者:
Zhou, Yiran
;
Chen, Beili
;
Li, Lin
;
Pan, Hong
;
Liu, Beihong
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2020/01/03
Primary ovarian insufficiency
whole exome sequencing
alanyl-tRNA synthetase
AARS2
A novel homozygous mutation of bone morphogenetic protein 15 identified in a consanguineous marriage family with primary ovarian insufficiency
期刊论文
2018, 卷号: 36, 期号: 2, 页码: 206-209
作者:
Zhang, Wei
;
Wang, Jing
;
Wang, Xi
;
Li, Lin
;
Pan, Hong
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2020/01/03
BMP15
Infertility
Primary ovarian insufficiency
Whole-exome sequencing
Sequence variants of KHDRBS1 as high penetrance susceptibility risks for primary ovarian insufficiency by mis-regulating mRNA alternative splicing
期刊论文
2017, 卷号: 32, 期号: 10, 页码: 2138-2146
作者:
Wang, Binbin
;
Li, Lin
;
Zhu, Ying
;
Zhang, Wei
;
Wang, Xi
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2020/01/03
primary ovarian insufficiency
premature ovarian failure
KHDRBS1
SAM68
alternative splicing
whole-exome sequencing
RNA-sequencing
pedigree
A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency
期刊论文
2017, 卷号: 32, 期号: 1, 页码: 248-255
作者:
Li, Lin
;
Wang, Binbin
;
Zhang, Wei
;
Chen, Beili
;
Luo, Minna
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2020/01/04
primary ovarian insufficiency
NOBOX
homozygous truncating variant
GDF9
G2
M arrest
Gelatin-Encapsulated Magnetic Nanoparticles for pH, Redox, and Enzyme Multiple Stimuli-Responsive Drug Delivery and Magnetic Resonance Imaging
期刊论文
2017, 卷号: 13, 期号: 11, 页码: 1386-1397
作者:
Qi, Anhui
;
Deng, Lin
;
Liu, Xi
;
Wang, Shu
;
Zhang, Xiaodi
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2020/01/04
Magnetic Nanoparticles
Gelatin
Doxorubicin
Magnetic Resonance Imaging
Stimuli-Responsive Drug Delivery
A dominant negative mutation at the ATP binding domain of AMHR2 is associated with a defective anti-Mullerian hormone signaling pathway
期刊论文
2016, 卷号: 22, 期号: 9, 页码: 669-678
作者:
Li, Lin
;
Zhou, Xueya
;
Wang, Xi
;
Wang, Jing
;
Zhang, Wei
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2020/01/04
primary ovarian insufficiency
anti-Mullerian hormone (AMH)
AMHR2
dominant negative mutation
signaling pathway
granulosa cell
transforming growth factor-beta (TGF-beta)
premature ovarian failure
ovarian follicle development
Relative Skeletal Effects in Different Sites of the Mandible With the Proximal Tibia During Ovariectomy and the Subsequent Estrogen Treatment
期刊论文
2015, 卷号: 41, 期号: ,SI, 页码: 386-390
作者:
Liu, Hao
;
Gao, Kai
;
Lin, Hong
;
Zhang, Yu
;
Li, Binbin
收藏
  |  
浏览/下载:1/0
  |  
提交时间:2020/01/13
Novel Risk Loci for Rheumatoid Arthritis in Han Chinese and Congruence With Risk Variants in Europeans
期刊论文
2014, 卷号: 66, 期号: 5, 页码: 1121-1132
作者:
Jiang, Lei
;
Yin, Jian
;
Ye, Lingying
;
Yang, Jian
;
Hemani, Gibran
收藏
  |  
浏览/下载:8/0
  |  
提交时间:2020/01/13
Two novel HAND1 mutations in Chinese patients with ventricular septal defect
期刊论文
2012, 卷号: 413, 期号: 7-8, 页码: 675-677
作者:
Cheng, Zhi
;
Lib, Lin
;
Li, Zhongzhi
;
Liu, Mugen
;
Yan, Jinting
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2020/01/13
HAND1
Congenital heart disease
Ventricular septal defect
Mutation
Polymorphisms in the Presumptive Promoter Region of the SLC2A9 Gene Are Associated with Gout in a Chinese Male Population
期刊论文
2012, 卷号: 7, 期号: 2
作者:
Li, Changgui
;
Chu, Nan
;
Wang, Binbin
;
Wang, Jing
;
Luan, Jian
收藏
  |  
浏览/下载:8/0
  |  
提交时间:2020/01/13
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