{"title":"Genomic technologies identify milder presentations of Mendelian disease","authors":"Alisdair McNeill","doi":"10.1038/s41431-024-01682-z","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":12016,"journal":{"name":"European Journal of Human Genetics","volume":"32 9","pages":"1033-1034"},"PeriodicalIF":3.7000,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s41431-024-01682-z.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"European Journal of Human Genetics","FirstCategoryId":"99","ListUrlMain":"https://www.nature.com/articles/s41431-024-01682-z","RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
期刊介绍：
The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community.
Key areas include:
-Monogenic and multifactorial disorders
-Development and malformation
-Hereditary cancer
-Medical Genomics
-Gene mapping and functional studies
-Genotype-phenotype correlations
-Genetic variation and genome diversity
-Statistical and computational genetics
-Bioinformatics
-Advances in diagnostics
-Therapy and prevention
-Animal models
-Genetic services
-Community genetics
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