{"title":"听力损失遗传病因诊断的临床挑战","authors":"A. Birkeland, M. Lesperance","doi":"10.1159/000444564","DOIUrl":null,"url":null,"abstract":"Tremendous progress has been made over the past 25 years in identifying genes responsible for nonsyndromic or syndromic deafness. However, clinical challenges remain that limit the number of patients","PeriodicalId":76182,"journal":{"name":"Monographs in human genetics","volume":"23 1","pages":"40-55"},"PeriodicalIF":0.0000,"publicationDate":"2016-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1159/000444564","citationCount":"1","resultStr":"{\"title\":\"Clinical Challenges in Diagnosing the Genetic Etiology of Hearing Loss\",\"authors\":\"A. Birkeland, M. Lesperance\",\"doi\":\"10.1159/000444564\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Tremendous progress has been made over the past 25 years in identifying genes responsible for nonsyndromic or syndromic deafness. However, clinical challenges remain that limit the number of patients\",\"PeriodicalId\":76182,\"journal\":{\"name\":\"Monographs in human genetics\",\"volume\":\"23 1\",\"pages\":\"40-55\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2016-04-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1159/000444564\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Monographs in human genetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1159/000444564\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Monographs in human genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1159/000444564","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Clinical Challenges in Diagnosing the Genetic Etiology of Hearing Loss
Tremendous progress has been made over the past 25 years in identifying genes responsible for nonsyndromic or syndromic deafness. However, clinical challenges remain that limit the number of patients
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