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Analytical Chemistry|July 15, 2014
Tandem mass spectrometry assays of palmitoyl protein thioesterase 1 and tripeptidyl peptidase activity in dried blood spots for the detection of neuronal ceroid lipofuscinoses in newbornsMariana Barcenas, Chang Xue, Tatyana Marushchak-Vlaskin, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 27, 2013
A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencingColin C Pritchard, Christina Smith, Tatyana Marushchak, et al.Pageof 1