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Rigshospitalet - a part of Copenhagen University Hospital
Published

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. 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. Functional Assessment of Variants Associated with Wolfram Syndrome

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Autism and developmental disability caused by KCNQ3 gain-of-function variants

    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