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潘乾
硕士
研究方向: 基因克隆及基因功能
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289条记录,
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing
WOS被引频次:159
SCI-EMedline
作者: Wang, Jun Ling;Yang, Xu;Xia, Kun;Hu, Zheng Mao;Weng, Ling;Jin, Xin;Jiang, Hong;Zhang, Peng;Shen, Lu;Guo, Ji Feng;Li, Nan;Li, Ying Rui;Lei, Li Fang;Zhou, Jie;Du, Juan;Zhou, Ya Fang;Pan, Qian;Wang, Jian;Wang, Jun;Li, Rui Qiang
期刊: Brain,2010年133(12):3510-3518 ISSN:0006-8950
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Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein
WOS被引频次:91
SCI-EEIMedline
作者: Tan, Jieqiong;Zhang, Tongmei;Jiang, Li;Chi, Jingwei;Hu, Dongshen;Pan, Qian;Wang, Danling;Zhang, Zhuohua*
期刊: Journal of Biological Chemistry,2011年286(34):29654-29662 ISSN:0021-9258
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Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia
WOS被引频次:31
SCI-EMedline
作者: Shi, Yuting;Wang, Junling;Li, Jia-Da;Ren, Haigang;Guan, Wenjuan;He, Miao;Yan, Weiqian;Zhou, Ying;Hu, Zhengmao;Zhang, Jianguo;Xiao, Jingjing;Su, Zheng;Dai, Meizhi;Wang, Jun;Jiang, Hong;Guo, Jifeng;Zhou, Yafang;Zhang, Fufeng;Li, Nan;Du, Juan
期刊: PLOS ONE,2013年8(12) ISSN:1932-6203
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SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia
WOS被引频次:30
SCI-EMedline
作者: Guo, Hui;Jin, Xuemin;Zhu, Tengfei;Wang, Tianyun;Tong, Ping;Tian, Lei;Peng, Yu;Sun, Liangdan;Wan, Anran;Chen, Jingjing;Liu, Yanling;Li, Ying;Tian, Qi;Xia, Lu;Zhang, Lusi;Pan, Yongcheng;Lu, Lina;Liu, Qiong;Shen, Lu;Li, Yunping
期刊: Journal of Medical Genetics,2014年51(8):518-525 ISSN:0022-2593
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Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population.
WOS被引频次:30
SCI-EMedline
作者: Li, Xiaoping;Hu, Zhengmao;He, Yiqun;Xiong, Zhimin;Long, Zhigao;Peng, Yu;Bu, Fengxiao;Ling, Jie;Xun, Guanglei;Mo, Xiaoyun;Pan, Qian;Zhao, Jingping;Xia, Kun*
期刊: Psychiatric Genetics,2010年20(3):113-117 ISSN:0955-8829
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Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population.
WOS被引频次:29
SCI-EMedline
作者: Sun, Qi-Ying;Guo, Ji-Fen;Wang, Lei;Yu, Ren-He;Zuo, Xing;Yao, Ling-Yan;Pan, Qian;Xia, Kun;Tang, Bei-Sha*
期刊: Movement Disorders,2010年25(8):1005-1011 ISSN:1531-8257
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Polygenic determinants of Parkinson's disease in a Chinese population
WOS被引频次:24
SCI-EMedline
作者: Guo, Ji-Feng;Li, Kai;Yu, Ri-Li;Sun, Qi-Yin;Wang, Lei;Yao, Ling-Yan;Hu, Ya-Cen;Lv, Zhan-Yun;Luo, Lin-Zi;Shen, Lu;Jiang, Hong;Yan, Xin-Xiang;Pan, Qian;Xia, Kun;Tang, Bei-Sha*
期刊: Neurobiology of Aging,2015年36(4):1765.e1-1765.e6 ISSN:0197-4580
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Screening for two SNPs of LINGO1 gene in patients with essential tremor or sporadic Parkinson's disease in Chinese population
WOS被引频次:22
SCI-EMedline
作者: Zuo, Xing;Jiang, Hong;Guo, Ji-feng;Yu, Ren-he;Sun, Qi-ying;Hu, Liang;Wang, Lei;Yao, Ling-yan;Shen, Lu;Pan, Qian;Yan, Xin-xiang;Xia, Kun;Tang, Bei-sha*
期刊: Neuroscience letters,2010年481(2):69-72 ISSN:0304-3940
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Pathogenic Connexin-31 Forms Constitutively Active Hemichannels to Promote Necrotic Cell Death
WOS被引频次:22
SCI-EMedline
作者: Chi, Jingwei*;Li, Li;Liu, Mujun;Tan, Jieqiong;Tang, Chengyuan;Pan, Qian;Wang, Danling;Zhang, Zhuohua
期刊: PLOS ONE,2012年7(2):e32531 ISSN:1932-6203
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Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia
WOS被引频次:21
SCI-EMedline
作者: Guo, Hui;Tong, Ping;Liu, Yanling;Xia, Lu;Wang, Tianyun;Tian, Qi;Li, Ying;Hu, Yidiao;Zheng, Yu;Jin, Xuemin;Li, Yunping;Xiong, Wei;Tang, Beisha;Feng, Yong;Li, Jiada;Pan, Qian;Hu, Zhengmao;Xia, Kun*
期刊: Genetics in Medicine,2015年17(4):300-6 ISSN:1098-3600
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PITX3 gene polymorphism is associated with Parkinson's disease in Chinese population
WOS被引频次:18
SCI-EMedline
作者: Liu, Jia;Sun, Qi-ying;Tang, Bei-sha;Hu, Liang;Yu, Ren-he;Wang, Lei;Shi, Chang-he;Yan, Xin-xiang;Pan, Qian;Xia, Kun;Guo, Ji-feng*
期刊: Brain Research,2011年1392:116-20 ISSN:0006-8993
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Synthetic House-Tree-Person Drawing Test: A New Method for Screening Anxiety in Cancer Patients.
WOS被引频次:1
SCI-ESSCI
作者: Sheng, Lijuan;Yang, Guifang;Pan, Qian;Xia, Chunfang;Zhao, Liping*
期刊: Journal of oncology,2019年2019:5062394 ISSN:1687-8450
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Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic
WOS被引频次:16
SCI-EMedline
作者: Wang, Yin-guang;Du, Juan;Wang, Jun-ling;Chen, Juan;Chen, Chong;Luo, Ying-ying;Xiao, Zhi-quan;Jiang, Hong;Yan, Xin-xiang;Xia, Kun;Pan, Qian;Tang, Bei-sha;Shen, Lu*
期刊: Journal of the Neurological Sciences,2009年285(1-2):121-124 ISSN:0022-510X
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Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: Genetic, clinical, and positron emission tomography findings
WOS被引频次:15
SCI-EMedline
作者: Wang, Jun-Ling;Xiao, Bin;Cui, Xiang-Xiang;Guo, Ji-Feng;Lei, Li-Fang;Song, Xing-Wang;Shen, Lu;Jiang, Hong;Yan, Xin-Xiang;Pan, Qian;Long, Zhi-Gao;Xia, Kun;Tang, Bei-Sha*
期刊: Movement Disorders,2009年24(13):2007-2011 ISSN:1531-8257
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Targeted methylation sequencing reveals dysregulated Wnt signaling in Parkinson disease
WOS被引频次:15
SCI-EMedlineCSCD
作者: Zhang, Lusi;Deng, Jie;Pan, Qian;Zhan, Yan;Fan, Jian-Bing;Zhang, Kun*;Zhang, Zhuohua*
期刊: Journal of Genetics and Genomics,2016年(10):587-592 ISSN:1673-8527
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Disruption of Contactin 4 in two subjects with autism in Chinese population
WOS被引频次:13
SCI-EMedline
作者: Guo, Hui;Xun, Guanglei;Peng, Yu;Xiang, Xinying;Xiong, Zhimin;Zhang, Lusi;He, Yiqun;Xu, Xiaojuan;Liu, Yalan;Lu, Lina;Long, Zhigao;Pan, Qian;Hu, Zhengmao;Zhao, Jingping*;Xia, Kun
期刊: Gene,2012年505(2):201-205 ISSN:0378-1119
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Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders
WOS被引频次:12
SCI-EMedline
作者: Chen, Zhao;Wang, Jun-ling;Tang, Bei-sha;Sun, Zhan-fang;Shi, Yu-ting;Shen, Lu;Lei, Li-fang;Wei, Xiao-ming;Xiao, Jing-jing;Hu, Zheng-mao;Pan, Qian;Xia, Kun;Zhang, Qing-yan;Dai, Mei-zhi;Liu, Yu;Ashizawa, Tetsuo;Jiang, Hong*
期刊: Neurobiology of Aging,2013年34(10):2442.e11-2442.e17 ISSN:0197-4580
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Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population
WOS被引频次:12
SCI-EMedline
作者: Hu, Zhengmao;Xiong, Zhimin;Xu, Xiaojuan;Li, Fangfang;Lu, Lina;Li, Wei;Su, Juan;Liu, Yalan;Liu, Deyuan;Xie, Zhiguo;Peng, Yu;Kuang, Yehong;Wu, Lisha;Zhang, Jianglin;Pan, Qian;Tang, Beisha;Chen, Xiang*;Xia, Kun
期刊: Human Genetics,2012年131(7):1269-1274 ISSN:0340-6717
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Two Novel SNPs in ATXN3 3 ' UTR May Decrease Age at Onset of SCA3/MJD in Chinese Patients
WOS被引频次:11
SCI-EMedline
作者: Long, Zhe;Chen, Zhao;Wang, Chunrong;Huang, Fengzhen;Peng, Huirong;Hou, Xuan;Ding, Dongxue;Ye, Wei;Wang, Junling;Pan, Qian;Li, Jiada;Xia, Kun;Tang, Beisha;Ashizawa, Tetsuo;Jiang, Hong*
期刊: PLOS ONE,2015年10(2):e0117488 ISSN:1932-6203
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FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients
WOS被引频次:11
SCI-EMedline
作者: Luo, Lin-zi;Xu, Qian;Guo, Ji-feng;Wang, Lei;Shi, Chang-he;Wei, Jiao-hua;Long, Zhi-gao;Pan, Qian;Tang, Bei-sha;Xia, Kun;Yan, Xin-xiang*
期刊: Neuroscience letters,2010年482(2):86-9 ISSN:0304-3940
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