雜志介紹

Molecular Syndromology雜志介紹

《Molecular Syndromology》是一本以English為主的未開放獲取國際優(yōu)秀期刊，中文名稱分子綜合癥學，本刊主要出版、報道醫(yī)學-GENETICS & HEREDITY領域的研究動態(tài)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(yè)的最新進展，探討行業(yè)發(fā)展的思路和方法，以促進學術信息交流，提高行業(yè)發(fā)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(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0.9，最新CiteScore 指數為1.7。

本刊近期中國學者發(fā)表的論文主要有：

• COL7A1 Homozygous Arg2471Ter Mutation Leads to the Severe Phenotype of Autosomal Recessive Dystrophic Epidermolysis Bullosa in the Fetus

  Author: Zhao, Xuliang; Sun, Weiwei; Cui, Zhihui; Yu, Min; Wang, Qi; Wang, Pengcheng; Tian, Ruixia

• Prenatal Diagnosis of Intragenic HNF1B Variant-Associated Renal Disease by Exome Sequencing

  Author: Yu, Qiu-Xia; Jing, Xiang-Yi; Li, Dong-Zhi

• Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior

  Author: Younus, Muhammad; Rasheed, Memoona; Lin, Zhaohan; Asiri, Saeed A.; Almazni, Ibrahim A.; Alshehri, Mohammed Ali; Shafiq, Sarfraz; Iqbal, Imran; Khan, Amjad; Ullah, Hanif; Umair, Muhammad; Waqas, Ahmed

• A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency

  Author: Duan, Ying; Xia, Yu; Gong, Zhuwen; Liu, Huili; Liang, Lili; Zhang, Kaichuang; Yang, Yi; Wang, Ruifang; Xiao, Bing; Qiu, Wenjuan

英文介紹

Molecular Syndromology雜志英文介紹

'Molecular Syndromology' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.