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科研机构
山东大学 [5]
昆明动物研究所 [5]
北京大学 [3]
重庆大学 [3]
成都生物研究所 [2]
上海药物研究所 [2]
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期刊论文 [37]
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Somatic variants in new candidate genes identified in focal cortical dysplasia type II
期刊论文
EPILEPSIA, 2020, 页码: 12
作者:
Zhang, Zhongbin
;
Gao, Kai
;
Liu, Qingzhu
;
Zhou, Jiapeng
;
Li, Xiyuan
收藏
  |  
浏览/下载:21/0
  |  
提交时间:2020/12/10
focal cortical dysplasia type II
insulin pathway
mTOR
Ras pathway
somatic variants
ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants
期刊论文
FRONTIERS IN GENETICS, 2019, 卷号: 10
作者:
Hu, Fang-Yuan
;
Li, Jian-kang
;
Gao, Feng-Juan
;
Qi, Yu-He
;
Xu, Ping
收藏
  |  
浏览/下载:50/0
  |  
提交时间:2019/12/05
STGD1
next-generation sequencing
ABCA4 gene
mutation spectrum
variant frequency
Variation analysis of the TMEM150B gene in Chinese women with premature ovarian insufficiency
期刊论文
REPRODUCTIVE BIOMEDICINE ONLINE, 2019, 卷号: 38, 期号: 3, 页码: 407-412
作者:
Shao, Tong
;
Ke, Hanni
;
Liu, Ran
;
Zhao, Shidou
;
Qin, Yingying
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2019/12/11
Autophagy
Early menopause
Premature ovarian insufficiency
TMEM150B
Variant screening
Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China
期刊论文
2019, 卷号: 105, 期号: 4, 页码: 803-812
作者:
Dai Pu
;
Huang Li-Hui
;
Wang Guo-Jian
;
Gao Xue
;
Qu Chun-Yan
收藏
  |  
浏览/下载:37/0
  |  
提交时间:2020/01/03
aminoglycoside antibiotics
deafness genes
genetic deafness
habilitation
late-onset hearing loss
microarray
newborn genetic screening
newborn hearing screening
ototoxicity
pathogenic variant
Mitochondrial genomes of the early land plant lineage liverworts (Marchantiophyta): conserved genome structure, and ongoing low frequency recombination
期刊论文
BMC GENOMICS, 2019, 卷号: 20, 期号: 1
作者:
Dong, Shanshan
;
Zhao, Chaoxian
;
Zhang, Shouzhou
;
Zhang, Li
;
Wu, Hong
收藏
  |  
浏览/下载:13/0
  |  
提交时间:2022/01/06
Bryophytes
recombination
structural evolution
repeats
introns
The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine
期刊论文
MOLECULAR GENETICS AND METABOLISM REPORTS, 2018, 卷号: 17, 页码: 46-52
作者:
Li, Hong
;
Zhao, Lihua
;
Singh, Rani
;
Ham, J. Nina
;
Fadoju, Doris O.
收藏
  |  
浏览/下载:85/0
  |  
提交时间:2019/01/08
Glucagon receptor
Newborn screening
GCGR mutation
Hyperaminoacidemia
Mahvash disease
Pancreatic alpha cell hyperplasia (ACH)
Pancreatic neuroendocrine tumor (PNET)
An Innovation for Treating Orthotopic Pancreatic Cancer by Preoperative Screening and Imaging-Guided Surgery
期刊论文
Molecular Imaging And Biology, 2018, 期号: x, 页码: x
作者:
Ziyu Han
;
Wenting Shang
;
Xiaoyuan Liang
;
Hao Yan
;
Min Hu
收藏
  |  
浏览/下载:44/0
  |  
提交时间:2018/10/10
Low-density Lipoprotein Receptor (Ldlr)
Photoacoustic Imaging
Peptide-22
Optical-guided Surgery
Variation analysis of PUM1 gene in Chinese women with primary ovarian insufficiency
期刊论文
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 2018, 卷号: 35, 期号: 4, 页码: 727-731
作者:
Luo, Wei
;
Ke, Hanni
;
Liu, Ran
;
Qin, Yingying
;
Mak, Winifred
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2019/12/11
Primary ovarian insufficiency
PUM1
Meiosis
Variant screening
Missense Variants in HIF1A and LACC1 Contribute to Leprosy Risk in Han Chinese
期刊论文
The American Journal of Human Genetics, 2018, 期号: 102, 页码: 794–805
作者:
Deng-Feng Zhang
;
Dong Wang
;
Yong-Gang Yao
;
Mahadev Malhi
;
Rui Bi
收藏
  |  
浏览/下载:18/0
  |  
提交时间:2018/09/27
A high-throughput in vivo selection method for luciferase variants
期刊论文
SENSORS AND ACTUATORS B-CHEMICAL, 2018, 卷号: 273, 期号: 2018, 页码: 191-197
作者:
Sun, Meiling
;
Fu, Zhicong
;
Wang, Tao
;
Cui, Xin
;
Dong, Juan
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2021/10/29
Gaussia luciferase
Selection method
Bioluminescence
Optical sensor
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