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

    Research output: Contribution to journalJournal articleResearchpeer-review

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

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  3. Targeted Gene Sequencing and Whole-Exome Sequencing in Autopsied Fetuses with Prenatally Diagnosed Kidney Anomalies

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Clinical and genetic characteristics of late-onset Huntington's disease

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Development, behaviour and autism in individuals with SMC1A variants

    Research output: Contribution to journalJournal articleResearchpeer-review

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

    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