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Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing

Orphan diseases are individually uncommon but collectively contribute significantly to pediatric morbidity, mortality and healthcare costs. Current molecular testing for rare genetic disorders is often a lengthy and costly endeavor, and in many cases a molecular diagnosis is never achieved despite e...

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Hlavní autoři: Kingsmore, Stephen F, Dinwiddie, Darrell L, Miller, Neil A, Soden, Sarah E, Saunders, Carol J
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3740118/
https://ncbi.nlm.nih.gov/pubmed/22022947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1586/erm.11.70
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