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3 Result(s)

within Cecilie F. Rustad Remove this filter Medicine & Public Health Remove this filter Human Genetics Remove this filter

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  1. Article

    Open Access

    Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study

    An amendment to this paper has been published and can be accessed via the original article.

    Svein O. Fredwall, Unni Steen, Olga de Vries… in Orphanet Journal of Rare Diseases (2020)

    Download PDF (564 KB) View Article

  2. Article

    Open Access

    High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study

    Symptomatic spinal stenosis (SSS) is a well-known medical complication in achondroplasia. The reported prevalence of SSS is 10 to 30%, an estimate based on small studies or selected populations. No population-...

    Svein O. Fredwall, Unni Steen, Olga de Vries… in Orphanet Journal of Rare Diseases (2020)

    Download PDF (1137 KB) View Article

  3. No Access

    Article

    Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

    Mutations of the SMARCB1 gene have been implicated in several human tumour predisposing syndromes. They have recently been identified as an underlying cause of the tumour suppressor syndrome schwannomatosis. Ther...

    Miriam J. Smith, Andrew J. Wallace, Naomi L. Bowers, Cecilie F. Rustad… in neurogenetics (2012)