Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome

Research output: Contribution to journalLetterResearchpeer-review

DOI

  1. Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. 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

  3. Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. First reported adult patient with TARP syndrome: A case report

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Ocular albinism with infertility and late-onset sensorineural hearing loss

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations
Original languageEnglish
JournalAmerican Journal of Medical Genetics. Part A
Volume185
Issue number8
Pages (from-to)2597-2601
Number of pages5
ISSN1552-4825
DOIs
Publication statusPublished - Aug 2021

ID: 65654136