{"title":"探索多囊肾中新的基因与疾病的关联:一份强调精确基因组诊断重要性的病例报告。","authors":"Gemma Scholes, Yael Prawer, Jessica Ryan, Kunal Verma, Kushani Jayasinghe","doi":"10.1007/s40620-024-02113-4","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":16542,"journal":{"name":"Journal of Nephrology","volume":" ","pages":"765-769"},"PeriodicalIF":2.7000,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Exploring new gene-disease associations in polycystic kidney disease: a case report highlighting the importance of a precise genomic diagnosis.\",\"authors\":\"Gemma Scholes, Yael Prawer, Jessica Ryan, Kunal Verma, Kushani Jayasinghe\",\"doi\":\"10.1007/s40620-024-02113-4\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":16542,\"journal\":{\"name\":\"Journal of Nephrology\",\"volume\":\" \",\"pages\":\"765-769\"},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2025-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Nephrology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s40620-024-02113-4\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/10/9 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"UROLOGY & NEPHROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Nephrology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s40620-024-02113-4","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/10/9 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"UROLOGY & NEPHROLOGY","Score":null,"Total":0}
期刊介绍:
Journal of Nephrology is a bimonthly journal that considers publication of peer reviewed original manuscripts dealing with both clinical and laboratory investigations of relevance to the broad fields of Nephrology, Dialysis and Transplantation. It is the Official Journal of the Italian Society of Nephrology (SIN).