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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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| Главные авторы: | , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2011
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| Предметы: | |
| Online-ссылка: | 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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