{"title":"致病拷贝数变异的神经学特征。","authors":"Jason Coryell","doi":"10.15844/pedneurbriefs-34-20","DOIUrl":null,"url":null,"abstract":"<p><p>Investigators from Children's Hospital at Westmead, University of Sydney, performed a retrospective review (2006-2012) of the diagnostic yield of array comparative genomic hybridization (aCGH) among 555 children with diverse neurologic phenotypes in whom a genetic etiology was suspected [1].</p>","PeriodicalId":30710,"journal":{"name":"Pediatric Neurology Briefs","volume":"34 ","pages":"20"},"PeriodicalIF":0.0000,"publicationDate":"2020-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7747500/pdf/","citationCount":"1","resultStr":"{\"title\":\"Neurologic Features with Pathogenic Copy Number Variants.\",\"authors\":\"Jason Coryell\",\"doi\":\"10.15844/pedneurbriefs-34-20\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Investigators from Children's Hospital at Westmead, University of Sydney, performed a retrospective review (2006-2012) of the diagnostic yield of array comparative genomic hybridization (aCGH) among 555 children with diverse neurologic phenotypes in whom a genetic etiology was suspected [1].</p>\",\"PeriodicalId\":30710,\"journal\":{\"name\":\"Pediatric Neurology Briefs\",\"volume\":\"34 \",\"pages\":\"20\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-12-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7747500/pdf/\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Neurology Briefs\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15844/pedneurbriefs-34-20\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Neurology Briefs","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15844/pedneurbriefs-34-20","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Neurologic Features with Pathogenic Copy Number Variants.
Investigators from Children's Hospital at Westmead, University of Sydney, performed a retrospective review (2006-2012) of the diagnostic yield of array comparative genomic hybridization (aCGH) among 555 children with diverse neurologic phenotypes in whom a genetic etiology was suspected [1].
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