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分子综合征学

Molecular Syndromology

  • 1661-8769
  • 33
  • 1.198
  • Q4
  • 1661-8769
  • 33
  • 1.198
  • Q4
期刊简介
《分子综合症学》发表高质量的研究文章、短篇报告和综述,涉及常见和罕见的遗传综合征,旨在通过分子洞察力增加对临床的理解。特别感兴趣的主题包括遗传综合征的分子基础、基因型表型相关性、自然史、疾病管理策略以及基于分子发现的新疗法。研究模型系统也受到欢迎,特别是当它明显与人类遗传学相关时。通过对当前热点问题进行高质量的综述,该期刊旨在促进将研究成果转化为临床实践,并激发对临床相关问题的进一步研究。该期刊的目标不仅包括医学遗传学家和基础生物医学研究人员,还包括处理遗传综合征的临床医生。拥有来自三个大洲的四位副主编和广泛的国际编辑委员会,该期刊欢迎提交涵盖全球最新研究的稿件。
'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.