中文简介
临床遗传学将研究与临床联系起来，为临床遗传学家转化我们对遗传疾病分子基础理解的进展。该杂志发表高质量的研究论文，简短的报告，评论和微型评论，连接医学遗传学研究与临床实践。特别感兴趣的题目有:?将基因变异与疾病联系起来?基因组重组和疾病?表观遗传学和疾病?将基因型转化为表现型?复杂疾病的遗传学?遗传疾病的管理/干预?基因疾病的新疗法?发育生物学，因为它与临床遗传学有关?关于与遗传疾病共存或处于遗传疾病风险中的心理和行为方面的社会科学研究
英文简介
Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice.Topics of particular interest are:? Linking genetic variations to disease? Genome rearrangements and disease? Epigenetics and disease? The translation of genotype to phenotype? Genetics of complex disease? Management/intervention of genetic diseases? Novel therapies for genetic diseases? Developmental biology, as it relates to clinical genetics? Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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