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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

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DOI

  1. 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. Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma

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  2. Evaluation of the contribution of germline variants in BRCA1 and BRCA2 to uveal and cutaneous melanoma

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  3. Global microRNA profiling of metastatic conjunctival melanoma

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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