Research
Print page Print page
Switch language
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. Revised Danish guidelines for the cancer surveillance of patients with Cowden Syndrome

    Research output: Contribution to journalReviewResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Bone geometry, density, and microarchitecture in the distal radius and tibia in adults with Marfan Syndrome assessed by HR-pQCT

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Forming and ending marital or cohabiting relationships in a Danish population-based cohort of individuals with neurofibromatosis 1

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1: A nationwide study

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations
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