Yun-Ru Chen , Chihya Cheng , Yung-Hsiu Lu , Yu-Ting Chiang , Chuan-Kun Liu , Yao-Te Chiu , Fang-Chih Hsiao , Jui Teng Lai , Li Chung Kuei , Adam Yao , Dau-Ming Niu
{"title":"全基因组/外显子组测序快速实时分析系统在新生儿筛查中的应用","authors":"Yun-Ru Chen , Chihya Cheng , Yung-Hsiu Lu , Yu-Ting Chiang , Chuan-Kun Liu , Yao-Te Chiu , Fang-Chih Hsiao , Jui Teng Lai , Li Chung Kuei , Adam Yao , Dau-Ming Niu","doi":"10.1016/j.ymgme.2024.108679","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108679"},"PeriodicalIF":3.5000,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Applications of a rapid real time analysis system for whole genome/exome sequencing in newborn screening\",\"authors\":\"Yun-Ru Chen , Chihya Cheng , Yung-Hsiu Lu , Yu-Ting Chiang , Chuan-Kun Liu , Yao-Te Chiu , Fang-Chih Hsiao , Jui Teng Lai , Li Chung Kuei , Adam Yao , Dau-Ming Niu\",\"doi\":\"10.1016/j.ymgme.2024.108679\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":18937,\"journal\":{\"name\":\"Molecular genetics and metabolism\",\"volume\":\"144 2\",\"pages\":\"Article 108679\"},\"PeriodicalIF\":3.5000,\"publicationDate\":\"2025-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular genetics and metabolism\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1096719224005638\",\"RegionNum\":2,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/30 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q2\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular genetics and metabolism","FirstCategoryId":"99","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1096719224005638","RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/30 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
期刊介绍:
Molecular Genetics and Metabolism contributes to the understanding of the metabolic and molecular basis of disease. This peer reviewed journal publishes articles describing investigations that use the tools of biochemical genetics and molecular genetics for studies of normal and disease states in humans and animal models.