Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs

To evaluate the diagnostic value of single-nucleotide polymorphism (SNP) array testing in 1033 fetuses with ultrasound anomalies we investigated the prevalence and genetic nature of pathogenic findings. We reclassified all pathogenic findings into three categories: causative findings; unexpected dia...

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Detaylı Bibliyografya
Yayımlandı:Eur J Hum Genet
Asıl Yazarlar: Srebniak, Malgorzata I, Diderich, Karin EM, Joosten, Marieke, Govaerts, Lutgarde CP, Knijnenburg, Jeroen, de Vries, Femke AT, Boter, Marjan, Lont, Debora, Knapen, Maarten FCM, de Wit, Merel C, Go, Attie TJI, Galjaard, Robert-Jan H, Van Opstal, Diane
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2016
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4930096/
https://ncbi.nlm.nih.gov/pubmed/26328504
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.193
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