Blar i NTNU Open på forfatter "Toft, Ragnhild Karlgård"

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    • A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes 

      Hansen, Maren Fridtjofsen; Neckmann, Ulrike; Lavik, Liss Anne; Vold, Trine; Gilde, Bodil; Toft, Ragnhild Karlgård; Sjursen, Wenche (Journal article; Peer reviewed, 2014)
      The purpose of this study was to develop a massive parallel sequencing (MPS) workflow for diagnostic analysis of mismatch repair (MMR) genes using the GS Junior system (Roche). A pathogenic variant in one of four MMR genes, ...