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Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates
BACKGROUND: This study reports on the use of whole exome sequencing (WES) to diagnose children with inborn errors of metabolism and other disorders in United Arab Emirates. METHODS: From January 2012 to December 2014, 85 patients (46 % females) were seen in the metabolic center at Tawam Hospital (Ab...
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| Veröffentlicht in: | Orphanet J Rare Dis |
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| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2016
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4939014/ https://ncbi.nlm.nih.gov/pubmed/27391121 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0474-3 |
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