• Published

  Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum

  Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

• Published

  Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

  Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

• Published

  A Rare Case of Embryonal Carcinoma in a Patient with Turner Syndrome without Y Chromosomal Material but Mutations in KIT, AKT1, and ZNF358 Demonstrated Using Exome Sequencing

  Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

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• Illumina 2015 Sequencing Technology Forum

  Activity: Participating in or organising an event types › Participation in or organisation of workshop, seminar or course

• Next generation sequencing. Metoder, teknologi og platforme

  Activity: Talk or presentation types › Lecture and oral contribution

• Diagnostic testing for hereditary colon cancer using next generation sequencing

  Activity: Talk or presentation types › Lecture and oral contribution

View all (39) »