A carregar...

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

The genetic etiology of non-aneuploid fetal structural abnormalities is typically investigated by karyotyping and array-based detection of microscopically detectable rearrangements, and submicroscopic copy-number variants (CNVs), which collectively yield a pathogenic finding in up to 10% of cases. W...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Carss, Keren J., Hillman, Sarah C., Parthiban, Vijaya, McMullan, Dominic J., Maher, Eamonn R., Kilby, Mark D., Hurles, Matthew E.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4030780/
https://ncbi.nlm.nih.gov/pubmed/24476948
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu038
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!