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Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland
BACKGROUND: Pediatric disorders include a range of highly genetically heterogeneous conditions amenable to genome-wide diagnostic approaches. Finding a molecular diagnosis is challenging but can have profound lifelong benefits. METHODS: The Deciphering Developmental Disorders (DDD) study recruited &...
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| Gepubliceerd in: | N Engl J Med |
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| Hoofdauteurs: | , , , , , , , , , , , , , , , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
2023
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7614484/ https://ncbi.nlm.nih.gov/pubmed/37043637 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa2209046. |
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