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An exome sequencing strategy to diagnose lethal autosomal recessive disorders
Rare disorders resulting in prenatal or neonatal death are genetically heterogeneous. For some conditions, affected fetuses can be diagnosed by ultrasound scan, but this is not usually possible until mid-gestation. There is often limited fetal DNA available for investigation. We investigated a strat...
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| Hoofdauteurs: | , , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Nature Publishing Group
2015
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4205099/ https://ncbi.nlm.nih.gov/pubmed/24961629 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.120 |
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