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Rigshospitalet - a part of Copenhagen University Hospital
Published

Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Unique skeletal manifestations in patients with Primrose syndrome

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Revised Danish guidelines for the cancer surveillance of patients with Cowden Syndrome

    Research output: Contribution to journalReviewpeer-review

  3. Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Direct to consumer genetic testing in Denmark-public knowledge, use, and attitudes

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Genetisk screening af adopterede raske individer

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Genetisk screening af kommende forældre

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Det danske screeningsprogram for hæmoglobinopatier

    Research output: Contribution to journalJournal articleResearchpeer-review

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Original languageEnglish
JournalEuropean Journal of Medical Genetics
Volume62
Issue number2
Pages (from-to)96-96
Number of pages1
ISSN1769-7212
DOIs
Publication statusPublished - 2019

    Research areas

  • Aortic Aneurysm, E1A-Associated p300 Protein, Humans, Mutation

ID: 54942740