雜志介紹

European Journal Of Medical Genetics雜志介紹

《European Journal Of Medical Genetics》是一本以English為主的未開放獲取國際優(yōu)秀期刊，中文名稱歐洲醫(yī)學遺傳學雜志，本刊主要出版、報道醫(yī)學-GENETICS & HEREDITY領(lǐng)域的研究動態(tài)以及在該領(lǐng)域取得的各方面的經(jīng)驗和科研成果，介紹該領(lǐng)域有關(guān)本專業(yè)的最新進展，探討行業(yè)發(fā)展的思路和方法，以促進學術(shù)信息交流，提高行業(yè)發(fā)展。該刊已被國際權(quán)威數(shù)據(jù)庫SCIE收錄，為該領(lǐng)域相關(guān)學科的發(fā)展起到了良好的推動作用，也得到了本專業(yè)人員的廣泛認可。該刊最新影響因子為1.6，最新CiteScore 指數(shù)為4.1。

本刊近期中國學者發(fā)表的論文主要有：

• UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate

  Author: Kong, Ying; Ye, Chaoqun; Shi, Leyang; Dai, Qingmei; Wang, Ying; Hu, Jun; Wu, Xueyan; Shi, Meiyu; Hu, Xiaofeng; Huang, Huizhi

• Clinical analysis of Noonan syndrome caused by RRAS2 mutations and literature review

  Author: Yu, Chaonan; Lyn, Nan; Li, Dongxiao; Mei, ShiYue; Liu, Lei; Shang, Qing

• SMAD4 loss-of-function mutation predisposes to congenital heart disease

  Author: Wang, Yin; Xu, Ying-Jia; Yang, Chen-Xi; Huang, Ri-Tai; Xue, Song; Yuan, Fang; Yang, Yi-Qing

• VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy

  Author: Shi, Hong-Yu; Xie, Meng-Shi; Guo, Yu-Han; Yang, Chen-Xi; Gu, Jia-Ning; Qiao, Qi; Di, Ruo-Min; Qiu, Xing-Biao; Xu, Ying-Jia; Yang, Yi-Qing

英文介紹

European Journal Of Medical Genetics雜志英文介紹

The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models.

Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as :

? Dysmorphology and syndrome delineation

? Molecular genetics and molecular cytogenetics of inherited disorders

? Clinical applications of genomics and nextgen sequencing technologies

? Syndromal cancer genetics

? Behavioral genetics

? Community genetics

? Fetal pathology and prenatal diagnosis

? Genetic counseling.