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Rigshospitalet - a part of Copenhagen University Hospital
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SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

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DOI

  1. Novel Genetic Causes of Gastrointestinal Polyposis Syndromes

    Research output: Contribution to journalReviewResearchpeer-review

  2. Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family

    Research output: Contribution to journalJournal articleResearchpeer-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

  • Nd Rendtorff
  • I Schrijver
  • M Lodahl
  • J Rodriguez-Paris
  • T Johnsen
  • Ec Hansén
  • Laa Nickelsen
  • Z Tümer
  • T Fagerheim
  • Randi Wetke
  • L Tranebjaerg
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Original languageEnglish
JournalThe Application of Clinical Genetics
Volume84
Issue number4
Pages (from-to)388-391
ISSN1178-704X
DOIs
Publication statusPublished - 2013

ID: 38400324