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Dana Goos

Quest Diagnostics

4

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Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory

2011 Genetics in Medicine
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Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: Implications for fragile X syndrome carrier and newborn screening

2010 Genetics in Medicine
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Consultations in Molecular Diagnostics Characterization of a Recurrent Novel Large Duplication in the Cystic Fibrosis Transmembrane Conductance Regulator Gene

2007
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Characterization of a Recurrent Novel Large Duplication in the Cystic Fibrosis Transmembrane Conductance Regulator Gene

2007 The Journal of Molecular Diagnostics
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