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

Genfejl er årsag til blindhed hos yngre børn og yngre voksne

Research output: Chapter in Book/Report/Conference proceedingBook chapterCommunication

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

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Original languageDanish
Title of host publicationVelux Fonden Årsskrift 2014
Publication date2015
Pages98-101
ISBN (Print)0905-1015
Publication statusPublished - 2015

ID: 45885385