缩写名/全名 |
EUR J MED GENET
European Journal of Medical Genetics |
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ISSN号 | 1769-7212 | ||||||||||||||||||||
研究方向 | 医学-遗传学 | ||||||||||||||||||||
影响因子 | 2015:1.81, 2016:2.137, 2017:2.004, 2018:2.022, 2019:2.368, | ||||||||||||||||||||
出版国家 | NETHERLANDS | ||||||||||||||||||||
出版周期 | Quarterly | ||||||||||||||||||||
年文章数 | 170 | ||||||||||||||||||||
出版年份 | 2005 | ||||||||||||||||||||
是否OA | No | ||||||||||||||||||||
审稿周期(仅供参考) | 偏慢,4-8周 |
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录用比例 | 容易 | ||||||||||||||||||||
投稿链接 | http://ees.elsevier.com/ejmg/ | ||||||||||||||||||||
投稿官网 | http://www.elsevier.com/wps/find/journaldescription.cws_home/705239/description#description | ||||||||||||||||||||
h-index | 49 | ||||||||||||||||||||
CiteScore |
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PubMed Central (PMC)链接 | http://www.ncbi.nlm.nih.gov/nlmcatalog?term=1769-7212%5BISSN%5D | ||||||||||||||||||||
中科院SCI期刊分区 ( 2018年新版本) |
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中科院SCI期刊分区 ( 2020年新版本) |
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中国学者近期发表的论文 | |
1. | A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family Author: Lijian Xie, Cuilan Hou, Xunwei Jiang, Jian Zhao, Yun Li, Tingting Xiao Journal: European Journal of Medical Genetics, 2019, Vol., , DOI:10.1016/j.ejmg.2019.01.018 DOI |
2. | Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy Author: Kun Li, Runming Jin, Xiaoyan Wu Journal: European Journal of Medical Genetics, 2019, Vol., , DOI:10.1016/j.ejmg.2019.01.013 DOI |
3. | Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder Author: Qingming Wang, Xiaoling Huang, Yanhui Liu, Qian Peng, Yuqiong Zhang, Jianxin Liu, Haiming Yuan Journal: European Journal of Medical Genetics, 2019, Vol., , DOI:10.1016/j.ejmg.2019.01.001 DOI |
4. | A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia Author: Cui Song, Niu Li, Xuyun Hu, Yu Shi, Lili Chen, Ting Zhou, Xuejiao Xu, Jun Shen, Min Zhu Journal: European Journal of Medical Genetics, 2018, Vol., , DOI:10.1016/j.ejmg.2018.11.009 DOI |
5. | A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2 Author: Dongxiao Li, Hui Dong, Hong Zheng, Jinqing Song, Xiyuan Li, Ying Jin, Yupeng Liu, Yanling Yang Journal: European Journal of Medical Genetics, 2017, Vol.60, 685-689, DOI:10.1016/j.ejmg.2017.09.003 DOI |
6. | Pachydermoperiostosis of the complete type: A novel missense mutation c.101T > C in the SLCO2A1 gene Author: Wenbin Ma, Shuqin Guo, Yan Li, Zhihong Li Journal: European Journal of Medical Genetics, 2017, Vol.60, 433-436, DOI:10.1016/j.ejmg.2017.06.001 DOI |
7. | Identification of a novel and functional mutation in the TBX5 gene in a patient by screening from 354 patients with isolated ventricular septal defect Author: Huan-Xin Chen, Xi Zhang, Hai-Tao Hou, Jun Wang, Qin Yang, Xiu-Li Wang, Guo-Wei He Journal: European Journal of Medical Genetics, 2017, Vol.60, 385-390, DOI:10.1016/j.ejmg.2017.04.011 DOI |
8. | Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia Author: Weiqing Wu, Yang Liu, Qinghua Zhou, Qin Wang, Fuwei Luo, Zhiyong Xu, Qian Geng, Peining Li, Hui Z. Zhang, Jiansheng Xie Journal: European Journal of Medical Genetics, 2017, Vol.60, 369-373, DOI:10.1016/j.ejmg.2017.04.008 DOI |
9. | Novel FSHβ mutation in a male patient with isolated FSH deficiency and infertility Author: Junjie Zheng, Jiangfeng Mao, Mingxuan Cui, Zhaoxiang Liu, Xi Wang, Shuyu Xiong, Min Nie, Xueyan Wu Journal: European Journal of Medical Genetics, 2017, Vol.60, 335-339, DOI:10.1016/j.ejmg.2017.04.004 DOI |
10. | Before and after – Nutritional transformation of dysmorphism in a case of Costello syndrome Author: Annie T.G. Chiu, Lixing Zhu, Gary T.K. Mok, Gordon K.C. Leung, C.B. Chow, Brian H.Y. Chung Journal: European Journal of Medical Genetics, 2016, Vol.59, 573-576, DOI:10.1016/j.ejmg.2016.10.001 DOI |
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