Bmc Medical Genetics

雜志介紹

Bmc Medical Genetics雜志介紹

《Bmc Medical Genetics》是一本以English為主的開放獲取國際優秀期刊，中文名稱Bmc醫學遺傳學，本刊主要出版、報道醫學-GENETICS & HEREDITY領域的研究動態以及在該領域取得的各方面的經驗和科研成果，介紹該領域有關本專業的最新進展，探討行業發展的思路和方法，以促進學術信息交流，提高行業發展。該刊已被國際權威數據庫SCIE收錄，為該領域相關學科的發展起到了良好的推動作用，也得到了本專業人員的廣泛認可。最新CiteScore 指數為2.3。

本刊近期中國學者發表的論文主要有：

• A novel mutation in the OAR domain of <Emphasis Type="Italic">PITX3</Emphasis> associated with congenital posterior subcapsular cataract

  Author: Qi Fan, Dan Li, Lei Cai, Xiaodi Qiu, Zhennan Zhao, Jihong Wu, Jin Yang, Yi Lu

• A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family

  Author: Ningjin Wu, Husile Husile, Liqing Yang, Yaning Cao, Xing Li, Wenyan Huo, Haihua Bai, Yangjian Liu, Qizhu Wu

• The association between interleukin-6 gene -174G/C single nucleotide polymorphism and sepsis: an updated meta-analysis with trial sequential analysis

  Author: Yao Chen, Yanyan Hu, Zhenju Song

• Novel mutations of <Emphasis Type="Italic">STXBP2</Emphasis> and <Emphasis Type="Italic">LYST</Emphasis> associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report

  Author: Lingshuang Sheng, Wei Zhang, Jia Gu, Kefeng Shen, Hui Luo, Yang Yang

英文介紹

Bmc Medical Genetics雜志英文介紹

BMC Medical Genetics is an open access journal publishing original peer-reviewed research articles in the effects of genetic variation in individuals, families and among populations in relation to human health and disease.

Note: BMC Medical Genetics is now closed. This journal has merged with BMC Medical Genomics, a broad-scope, open access community journal for all medical genetics and genomics research.