Sean T. Mochal
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View article: Newborn Screening for Severe Combined Immunodeficiency Using the Multiple of the Median Values of T-Cell Receptor Excision Circles
Newborn Screening for Severe Combined Immunodeficiency Using the Multiple of the Median Values of T-Cell Receptor Excision Circles Open
All newborn screening programs screen for severe combined immunodeficiency by measurement of T-cell receptor excision circles (TRECs). Herein, we report our experience of reporting TREC assay results as multiple of the median (MoM) rather …
View article: WS16-6 Two years' experience of utilising CFTR next generation sequencing in a newborn screening program
WS16-6 Two years' experience of utilising CFTR next generation sequencing in a newborn screening program Open