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厦门大学 [6]
北京大学 [5]
成都生物研究所 [4]
中国农业科学院 [4]
山东大学 [4]
金属研究所 [2]
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期刊论文 [38]
学位论文 [2]
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浏览/检索结果:
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An enhancing effect attributed to a nonsynonymous mutation in SOYBEAN SEED SIZE 1, a SPINDLY-like gene, is exploited in soybean domestication and improvement
期刊论文
NEW PHYTOLOGIST, 2022, 卷号: 236, 期号: 4, 页码: 1375-1392
作者:
Zhu, Weiwei
;
Yang, Ce
;
Yong, Bin
;
Wang, Yan
;
Li, Bingbing
收藏
  |  
浏览/下载:0/0
  |  
提交时间:2024/03/07
100-seed weight
breeding
domestication
elite allelic variation
fruit
soybean
Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy
期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2019, 卷号: 23, 期号: 10, 页码: 722-727
作者:
Yuan, Ye
;
Xu, Huijuan
;
Zhang, Shanshan
;
Zhang, Xiang
;
Zhang, Lin
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2021/10/27
mutation
FEVR
TSPAN12
Positive and Negative Regulation of Glycerol Utilization by the c-di-GMP Binding Protein PIzA in Borrelia burgdorferi
期刊论文
JOURNAL OF BACTERIOLOGY, 2018, 卷号: 200, 期号: 22, 页码: 11
作者:
Yang, X. Frank
;
Gomelsky, Mark
;
Carrasco, Sebastian E.
;
He, Ming
;
Troxell, Bryan
收藏
  |  
浏览/下载:59/0
  |  
提交时间:2018/12/29
Borrelia burgdorferi
Lyme disease
PIzA
tick-borne pathogens
Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa
期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 卷号: 22, 期号: 3, 页码: 165-169
作者:
Yang, Mu
;
Li, Shujin
;
Liu, Wenjing
;
Yang, Yeming
;
Zhang, Lin
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  |  
浏览/下载:20/0
  |  
提交时间:2020/12/24
MERTK
next-generation sequencing
genetics
autosomal recessive retinitis pigmentosa
Strategies for identification of mutations induced by carbon-ion beam irradiation in Arabidopsis thaliana by whole genome re-sequencing
期刊论文
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, 2018, 卷号: 807, 页码: 21-30
作者:
Wang, Jufang
;
Du, Yan
;
Luo, Shanwei
;
Yu, Lixia
;
Cui, Tao
收藏
  |  
浏览/下载:48/0
  |  
提交时间:2018/05/31
Carbon-ion beam irradiation
Whole genome re-sequencing
Mutation
Data sieving strategy
Association analysis
Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis
期刊论文
SCIENCE CHINA-LIFE SCIENCES, 2018, 卷号: 61, 期号: 8, 页码: 947-953
作者:
Wang Rongrong
;
Yang Shuanghao
;
Xu Ming
;
Huang Jia
;
Liu Hongyan
收藏
  |  
浏览/下载:63/0
  |  
提交时间:2021/02/02
RED-CELL MEMBRANE
HEMATOLOGICALLY IMPORTANT MUTATIONS
RENAL TUBULAR-ACIDOSIS
HEMOLYTIC-ANEMIA
BETA-SPECTRIN
CYTOPLASMIC DOMAIN
BAND-3 DEFICIENCY
DISORDERS
ANKYRIN
VARIANTS
hereditary spherocytosis
mutation
ANK1
SPTB
SLC4A1
whole-exome sequencing
Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis
期刊论文
SCIENCE CHINA-LIFE SCIENCES, 2018, 卷号: 61, 期号: 8, 页码: 947-953
作者:
Wang Rongrong
;
Yang Shuanghao
;
Xu Ming
;
Huang Jia
;
Liu Hongyan
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2021/02/02
RED-CELL MEMBRANE
HEMATOLOGICALLY IMPORTANT MUTATIONS
RENAL TUBULAR-ACIDOSIS
HEMOLYTIC-ANEMIA
BETA-SPECTRIN
CYTOPLASMIC DOMAIN
BAND-3 DEFICIENCY
DISORDERS
ANKYRIN
VARIANTS
hereditary spherocytosis
mutation
ANK1
SPTB
SLC4A1
whole-exome sequencing
靶序列捕获技术检测激素耐药型肾病综合征致病基因
学位论文
2017, 2015
丁晓华
收藏
  |  
浏览/下载:8/0
  |  
提交时间:2017/06/20
激素耐药型肾病综合征
基因突变
诊断
靶序列捕获
steroid-resistant nephrotic syndrome
gene mutation
diagnosis
target next generation sequencing
A novel homozygous mutation in the FSHR gene is causative for primary ovarian insufficiency
期刊论文
FERTILITY AND STERILITY, 2017, 卷号: 108, 期号: 6, 页码: 1050-+
作者:
Liu, Hongli
;
Xu, Xiaofei
;
Han, Ting
;
Yan, Lei
;
Cheng, Lei
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/12
Primary ovarian insufficiency
FSHR gene
mutation
ovarian follicle
Whole-exome sequencing identifies a novel INS mutation causative of maturity-onset diabetes of the young 10
期刊论文
JOURNAL OF MOLECULAR CELL BIOLOGY, 2017, 卷号: 9, 期号: 5
作者:
Yan, Jing
;
Jiang, Feng
;
Zhang, Rong
;
Xu, Tongfu
;
Zhou, Zhou
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2019/12/06
whole-exome sequencing
causative mutation
MODY10
endoplasmic reticulum stress
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