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中国医学科学院 北... [11]
复旦大学上海医学院 [5]
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期刊论文 [26]
发表日期
2019 [26]
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A Powerful Method To Test Associations Between Ordinal Traits and Genotypes
期刊论文
G3-GENES GENOMES GENETICS, 2019, 卷号: 9, 期号: 8, 页码: 2573-2579
作者:
Wang, Jinjuan
;
Ding, Juan
;
Huang, Shouyou
;
Li, Qizhai
;
Pan, Dongdong
收藏
  |  
浏览/下载:62/0
  |  
提交时间:2020/01/10
association study
ordinal phenotype
latent normal variate
generalized estimating equation
M-estimation
Anxiety correlates with cortical surface area in subjective cognitive decline: APOE ε4 carriers versus APOE ε4 non-carriers
期刊论文
Alzheimer's Research & Therapy, 2019, 卷号: 11, 期号: 1, 页码: 1-10
作者:
Sun,Yu
;
Wang,Xiaoni
;
Wang,Yinshan
;
Dong,Haoming
;
Lu,Jie
收藏
  |  
浏览/下载:57/0
  |  
提交时间:2019/06/19
Subjective cognitive decline
Apolipoprotein E
Anxiety
Cortical morphometry
Alzheimer’s disease
Anxiety correlates with cortical surface area in subjective cognitive decline: APOE epsilon 4 carriers versus APOE epsilon 4 non-carriers
期刊论文
ALZHEIMERS RESEARCH & THERAPY, 2019, 卷号: 11, 页码: 10
作者:
Sun, Yu
;
Wang, Xiaoni
;
Wang, Yinshan
;
Dong, Haoming
;
Lu, Jie
收藏
  |  
浏览/下载:76/0
  |  
提交时间:2019/07/15
Subjective cognitive decline
Apolipoprotein E
Anxiety
Cortical morphometry
Alzheimer's disease
Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype-phenotype correlations
期刊论文
HUMAN GENETICS, 2019, 卷号: 138, 期号: 1
作者:
Wang, Xiuxia
;
Wang, Qiqi
;
Li, Da
;
Cai, Baozhu
;
Chen, Qing
收藏
  |  
浏览/下载:25/0
  |  
提交时间:2019/12/05
Genotype and phenotype analysis of a cohort of patients with congenital hyperinsulinism based on DOPA-PET CT scanning
期刊论文
EUROPEAN JOURNAL OF PEDIATRICS, 2019, 卷号: 178, 期号: 8
作者:
Ni, Jinwen
;
Ge, Jingjie
;
Zhang, Miaoying
;
Hussain, Khalid
;
Guan, Yihui
收藏
  |  
浏览/下载:51/0
  |  
提交时间:2019/12/05
Congenital hyperinsulinism
Hypoglycemia
Hyperinsulinemia
Mutation
Genetic association studies
Phenotype and Genotype of a Cohort of Chinese Children with Early-Onset Protein-Losing Enteropathy
期刊论文
JOURNAL OF PEDIATRICS, 2019, 卷号: 208
作者:
Ye, Ziqing
;
Huang, Ying
;
Wang, Yuhuan
;
Lu, Junping
;
Wu, Jie
收藏
  |  
浏览/下载:7/0
  |  
提交时间:2019/12/05
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model
期刊论文
GENETICS IN MEDICINE, 2019, 卷号: 21, 期号: 7
作者:
Liu, Jiaqi
;
Wu, Nan
;
Yang, Nan
;
Takeda, Kazuki
;
Chen, Weisheng
收藏
  |  
浏览/下载:63/0
  |  
提交时间:2019/12/05
congenital scoliosis (CS)
16p11.2/TBX6
compound inheritance model
genotype-phenotype correlation
gene dosage
NOVEL BEST1 MUTATIONS DETECTED BY NEXT-GENERATION SEQUENCING IN A CHINESE POPULATION WITH VITELLIFORM MACULAR DYSTROPHY
期刊论文
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2019, 卷号: 39, 期号: 8
作者:
Guo, Jingli
;
Gao, Fengjuan
;
Tang, Wenyi
;
Qi, Yuhe
;
Xuan, Yi
收藏
  |  
浏览/下载:36/0
  |  
提交时间:2019/12/05
adult-onset foveomacular vitelliform dystrophy
BEST1
genotype-phenotype
next-generation sequencing
optical coherence tomography angiography
Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency
期刊论文
MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 卷号: 7, 期号: 6
作者:
Xu, Chao
;
Jia, Wenyu
;
Cheng, Xiangdeng
;
Ying, Hui
;
Chen, Jing
收藏
  |  
浏览/下载:29/0
  |  
提交时间:2019/12/11
congenital adrenal hyperplasia (CAH)
CYP21A2
genotype-phenotype
associations
mutation
steroid 21-hydroxylase deficiency (21OHD)
Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta
期刊论文
HUMAN MUTATION, 2019, 卷号: 40, 期号: 5, 页码: 588-600
作者:
Li, Lulu
;
Mao, Bin
;
Li, Shan
;
Xiao, Jifang
;
Wang, Han
收藏
  |  
浏览/下载:141/0
  |  
提交时间:2019/12/11
Chinese cohort
genomic rearrangements
genotype-phenotype correlations
mutation spectrum
osteogenesis imperfecta
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