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CNKI学位论文(66)
CNKI期刊论文0611(4)
知网期刊论文(497)
在“
SpringerLink电子期刊
”中,
命中:
14
条,耗时:小于0.01 秒
在所有数据库中总计命中:
567
条
1.
Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation
作者:
Yongyi
Yuan
;
Xue Gao
;
Bangqing Huang
;
Jingqiao Lu
;
Guojian Wang
;
Xi Lin…
关键词:
Autosomal dominant nonsyndromic hearing impairment
;
Mutation
;
ACTG1
;
GJB2
;
Digenic inheritance
刊名:BMC Genetics
出版年:2016
2.
A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness
作者:
Aiping Huang
;
Yongyi
Yuan
;
Yanping Liu
;
Qingwen Zhu…
关键词:
EYA4
;
DFNA10
;
Hearing loss
;
Phenotype
;
Next
;
generation sequencing
刊名:Journal of Translational Medicine
出版年:2015
3.
Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation
作者:
Yuhua Zhu (3)
Shasha Huang (3)
Dongyang Kang (3)
Mingyu Han (3) (3)
Guojian Wang (3) (3)
Yongyi
Yuan
(3)
Yu Su (3)
Huijun Yuan (3)
Suoqiang Zhai (3)
Pu Dai (3) (3)
关键词:
Hearing loss
;
Mitochondrial DNA
;
Heteroplasmy
;
A1555G mutation
刊名:BMC Genetics
出版年:2014
4.
Profiles of the auditory epithelia related microRNA expression in neonatal and adult rats
作者:
Weiwei Guo
;
Yongyi
Yuan
;
Zhaohui Hou
;
Xiang Wang…
关键词:
miRNA
;
Microarray
;
Neonatal
;
Adult
;
Rat
;
Cochlear
刊名:European Journal of Medical Research
出版年:2014
5.
Combined analysis of genome-wide-linked susceptibility loci to Kawasaki disease in Han Chinese
作者:
Yuan
long Yan (1)
Yongyi
Ma (1)
Yunqiang Liu (1)
Hongde Hu (2)
Ying Shen (1)
Sizhong Zhang (1)
Yongxing Ma (1)
Dachang Tao (1)
Qing Wu (3)
Qian Peng (3)
Yuan Yang (1)
刊名:Human Genetics
出版年:2013
6.
Genetic mutations in nonsyndromic deafness patients of Chinese minority and han ethnicities in Yunnan, China
作者:
Feng Xin (1)
Yongyi
Yuan
(1)
Xiaoming Deng (3)
Mingyu Han (1) (2)
Guojian Wang (1) (2)
Jiandong Zhao (1)
Xue Gao (4)
Jun Liu (1)
Fei Yu (1)
Dongyi Han (1)
Pu Dai (1) (2)
关键词:
Genetic mutations
;
Nonsyndromic deafness
;
Minority
;
Han
;
Yunnan
刊名:Journal of Translational Medicine
出版年:2013
7.
Prevalence, clinical predictors, and prognostic impact of chronic renal insufficiency in very old Chinese patients with coronary artery disease
作者:
Shihui Fu (1)
Shuangyan Yi (1)
Bing Zhu (1)
Yuan
Liu (1)
Liang Wang (1)
Yongyi
Bai (1)
Ping Ye (1)
Leiming Luo (1)
关键词:
Coronary disease
;
Chronic renal insufficiency
;
Prevalence
;
Predictive value of tests
;
Prognosis
刊名:Aging Clinical and Experimental Research
出版年:2013
8.
SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct
作者:
Jiandong Zhao (1) (2)
Yongyi
Yuan
(1) (2)
Jing Chen (1)
Shasha Huang (1)
Guojian Wang (1) (2)
Dongyi Han (1)
Pu Dai (1) (2)
关键词:
Enlarged vestibular aqueduct (EVA)
;
MLPA
;
SLC26A4
;
Copy number variations (CNVs)
;
Mutation
刊名:Journal of Translational Medicine
出版年:2012
9.
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct
作者:
Shasha Huang (1) (2)
Dongyi Han (1)
Yongyi
Yuan
(1)
Guojian Wang (1)
Dongyang Kang (1)
Xin Zhang (1)
Xiaofei Yan (1)
Xiaoxiao Meng (1)
Min Dong (1)
Pu Dai (1)
关键词:
SLC26A4
;
hearing loss
;
Mondini dysplasia
;
enlarged vestibular aqueduct
;
inner ear malformation.
刊名:Journal of Translational Medicine
出版年:2011
10.
Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2
作者:
Yongyi
Yuan
(1)
Fei Yu (1)
Guojian Wang (1) (1)
Shasha Huang (1)
Ruili Yu (1)
Xin Zhang (1)
Deliang Huang (1)
Dongyi Han (1)
Pu Dai (1)
刊名:Journal of Translational Medicine
出版年:2010
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