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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair

Research output: Contribution to journalJournal articleResearchpeer-review

  1. upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Leucocytes Mutation load Declines with Age in Carriers of the m.3243A>G Mutation. A 10-year Prospective Cohort

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Chromothripsis and DNA Repair Disorders

    Research output: Contribution to journalReviewResearchpeer-review

  4. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

    Research output: Contribution to journalJournal articleResearchpeer-review

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Original languageEnglish
JournalClinical Genetics
Volume82
Issue number3
Pages (from-to)292-4
Number of pages3
ISSN0009-9163
DOIs
Publication statusPublished - 2012

Bibliographical note

Susanne Lindqvist og Kenneth Ravn Kennedy Center, der er flyttet til RH

ID: 36765944