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  1. 1
    A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome

    A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome von Kleppa, L, Kanavin, Ø.J, Klungland, A, Strømme, P

    Veröffentlicht in Neuroscience

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  2. 2
    Parental consanguinity is associated with a seven-fold increased risk of progressive encephalopathy: A cohort study from Oslo, Norway

    Parental consanguinity is associated with a seven-fold increased risk of progressive encephalopathy: A cohort study from Oslo, Norway von Strømme, P, Suren, P, Kanavin, Ø.J, Rootwelt, T, Woldseth, B, Abdelnoor, M, Magnus, P


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