Nicholas Demas, Cesar Estrada, Paula Morales, Mitchell Jacobs, John Kitchens, Andrew Pearson, Ramiro Maldonado
{"title":"肯塔基州遗传性视网膜疾病:美国人群的诊断率、基因变异和新突变。","authors":"Nicholas Demas, Cesar Estrada, Paula Morales, Mitchell Jacobs, John Kitchens, Andrew Pearson, Ramiro Maldonado","doi":"10.1186/s12920-025-02186-5","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"139"},"PeriodicalIF":2.0000,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12392666/pdf/","citationCount":"0","resultStr":"{\"title\":\"Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.\",\"authors\":\"Nicholas Demas, Cesar Estrada, Paula Morales, Mitchell Jacobs, John Kitchens, Andrew Pearson, Ramiro Maldonado\",\"doi\":\"10.1186/s12920-025-02186-5\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":8915,\"journal\":{\"name\":\"BMC Medical Genomics\",\"volume\":\"18 1\",\"pages\":\"139\"},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2025-08-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12392666/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"BMC Medical Genomics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1186/s12920-025-02186-5\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMC Medical Genomics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s12920-025-02186-5","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
期刊介绍:
BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.