东南亚snRNA基因RNU4-2相关综合征性智力障碍2例报告

{"title":"东南亚snRNA基因RNU4-2相关综合征性智力障碍2例报告","authors":"Jeannette Goh , Jiin Ying Lim , Annet Simons , Lisa Ewans , Sylvia Kam , Jasmine Goh , Jing Xian Teo , Sock Hoai Chan , Shermaine Chan , Simon Ling , Terrence Thomas , Gavin Tan , Weng Khong Lim , Angeline Lai , Saumya Shekhar Jamuar","doi":"10.1016/j.rare.2024.100054","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100054"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Report of two cases of snRNA gene RNU4-2 related syndromic intellectual disability from Southeast Asia\",\"authors\":\"Jeannette Goh , Jiin Ying Lim , Annet Simons , Lisa Ewans , Sylvia Kam , Jasmine Goh , Jing Xian Teo , Sock Hoai Chan , Shermaine Chan , Simon Ling , Terrence Thomas , Gavin Tan , Weng Khong Lim , Angeline Lai , Saumya Shekhar Jamuar\",\"doi\":\"10.1016/j.rare.2024.100054\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":101058,\"journal\":{\"name\":\"Rare\",\"volume\":\"3 \",\"pages\":\"Article 100054\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Rare\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2950008724000371\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Rare","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2950008724000371","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}