Search Results - "Newington, Taksina"
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Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen
Published in International journal of neonatal screening (01-09-2023)“…The collection of dried blood spots (DBS) facilitates newborn screening for a variety of rare, but very serious conditions in healthcare systems around the…”
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Journal Article -
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A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand
Published in Circulation (New York, N.Y.) (11-10-2024)“…Brugada syndrome (BrS) is a cardiac arrhythmia disorder that causes sudden death in young adults. Rare genetic variants in the gene encoding the Na 1.5 sodium…”
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Journal Article