{"title":"代谢失调是16p11.2缺失综合征的中心机制:临床变异性和治疗机会的多基因视角","authors":"Rana Fetit","doi":"10.1002/bies.202400299","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":9264,"journal":{"name":"BioEssays","volume":" ","pages":"e202400299"},"PeriodicalIF":3.2000,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Metabolic Dysregulation as a Central Mechanism in 16p11.2 Deletion Syndrome: A Multigenic Perspective on Clinical Variability and Therapeutic Opportunities.\",\"authors\":\"Rana Fetit\",\"doi\":\"10.1002/bies.202400299\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":9264,\"journal\":{\"name\":\"BioEssays\",\"volume\":\" \",\"pages\":\"e202400299\"},\"PeriodicalIF\":3.2000,\"publicationDate\":\"2025-01-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"BioEssays\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.1002/bies.202400299\",\"RegionNum\":3,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"BioEssays","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1002/bies.202400299","RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
Metabolic Dysregulation as a Central Mechanism in 16p11.2 Deletion Syndrome: A Multigenic Perspective on Clinical Variability and Therapeutic Opportunities.
期刊介绍:
molecular – cellular – biomedical – physiology – translational research – systems - hypotheses encouraged
BioEssays is a peer-reviewed, review-and-discussion journal. Our aims are to publish novel insights, forward-looking reviews and commentaries in contemporary biology with a molecular, genetic, cellular, or physiological dimension, and serve as a discussion forum for new ideas in these areas. An additional goal is to encourage transdisciplinarity and integrative biology in the context of organismal studies, systems approaches, through to ecosystems, where appropriate.