Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs

BACKGROUND: The overall birth prevalence for congenital malformations of the central nervous system (CNS) among Europeans may be as high as 1 in 100 live births. The etiological factors remain largely unknown. The aim of this study was to detect causative copy number variations (CNVs) in fetuses of...

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Detaylı Bibliyografya
Yayımlandı:J Neurodev Disord
Asıl Yazarlar: Schumann, Madita, Hofmann, Andrea, Krutzke, Sophia K., Hilger, Alina C., Marsch, Florian, Stienen, Dietlinde, Gembruch, Ulrich, Ludwig, Michael, Merz, Waltraut M., Reutter, Heiko
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2016
Konular:
Research
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4832534/
https://ncbi.nlm.nih.gov/pubmed/27087860
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s11689-016-9144-y
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