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

Cytogenetik og kromosomsygdomme

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

  1. Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

    Research output: Contribution to journalJournal articleResearchpeer-review

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Original languageDanish
Title of host publicationMedicinsk Genetik
EditorsSøren Nørby, Peter K. A. Jensen
Volume1
PublisherFADL's Forlag
Publication date2012
Edition2.
Pages83-100
ISBN (Print)9788777495748
Publication statusPublished - 2012

ID: 38664237