Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability

BACKGROUND: Array based comparative genomic hybridization (arrayCGH) has been increasingly used as the method of choice for diagnosis of patients with unexplained developmental delay/intellectual disability (DD/ID) but is not universally available for the high throughput use in routine practice. The...

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Hlavní autoři: Pohovski, Leona Morozin, Dumic, Katja K, Odak, Ljubica, Barisic, Ingeborg
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2013
Témata:
Methodology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3599182/
https://ncbi.nlm.nih.gov/pubmed/23383958
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-6-7
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