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The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Copper Metabolism, ATP7A and Menkes Disease

Research output: Chapter in Book/Report/Conference proceedingBook chapterResearchpeer-review

  1. Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Classification of MSH6 Variants of Uncertain Significance Using Functional Assays

    Research output: Contribution to journalReviewResearchpeer-review

  4. DLG4-related synaptopathy: a new rare brain disorder

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Deciphering the premature mortality in PIGA-CDG - An untold story

    Research output: Contribution to journalJournal articleResearchpeer-review

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Original languageEnglish
Title of host publicationeLS (Wiley Online Library)
PublisherJohn Wiley & Sons Ltd
Publication date16 Nov 2015
DOIs
Publication statusPublished - 16 Nov 2015

ID: 45888399