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Rigshospitalet - a part of Copenhagen University Hospital
Published

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

DOI

  1. Novel Genetic Causes of Gastrointestinal Polyposis Syndromes

    Research output: Contribution to journalReviewResearchpeer-review

  2. SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Crosstalk between BH4, pain, and dystonia

    Research output: Contribution to journalComment/debateResearchpeer-review

  2. Novel Genetic Causes of Gastrointestinal Polyposis Syndromes

    Research output: Contribution to journalReviewResearchpeer-review

  3. Danish guidelines for management of non-APC-associated hereditary polyposis syndromes

    Research output: Contribution to journalReviewResearchpeer-review

  4. A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency

    Research output: Contribution to journalJournal articleResearchpeer-review

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Original languageEnglish
JournalThe Application of Clinical Genetics
Volume85
Issue number4
Pages (from-to)390-392
ISSN1178-704X
DOIs
Publication statusPublished - 2014

ID: 38941898