全外显子组测序在孟德尔疾病诊断中的临床应用

{"title":"全外显子组测序在孟德尔疾病诊断中的临床应用","authors":"Bohn Stafleu van Loghum","doi":"10.1007/s12456-014-0008-7","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":23095,"journal":{"name":"Tijdschrift voor kindergeneeskunde","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"De klinische toepassing van whole-exome sequencing voor het diagnosticeren van mendeliaanse stoornissen\",\"authors\":\"Bohn Stafleu van Loghum\",\"doi\":\"10.1007/s12456-014-0008-7\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":23095,\"journal\":{\"name\":\"Tijdschrift voor kindergeneeskunde\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2014-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Tijdschrift voor kindergeneeskunde\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s12456-014-0008-7\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Tijdschrift voor kindergeneeskunde","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s12456-014-0008-7","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}