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Rigshospitalet - a part of Copenhagen University Hospital
Published

WFS1-Related Disorders in: GeneReviews at GeneTests (February 2009, revised 2013)

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Jervell and Lange-Nielsen Syndrome in: GeneReviews at GeneTests

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant

    Research output: Other contributionCommunication

  2. Lessons learned from 40 novel PIGA patients and a review of the literature

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Functional Assessment of Variants Associated with Wolfram Syndrome

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA

    Research output: Contribution to journalJournal articleResearchpeer-review

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Original languageEnglish
JournalMedical Genetics Information Resource
Publication statusPublished - 2013

Bibliographical note

Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle, 1997-2008. Avaliable at http://www.genetics.org

ID: 43524627