Risultati della ricerca - Clara DM van Karnebeek

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  1. 1
    Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia

    Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia di Clara DM van Karnebeek, Sylvia Stöckler‐Ipsiroglu

    Pubblicazione 2014
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  2. 2
    Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review

    Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review di Emma Leach, Michael Shevell, Kristin Bowden, Sylvia Stöckler‐Ipsiroglu, Clara DM van Karnebeek

    Pubblicazione 2014
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  3. 3
    De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

    De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome di Sylvie Langlois, Maja Tarailo‐Graovac, Bryan Sayson, Britt I. Drögemöller, Anne Swenerton, Colin J.D. Ross, Wyeth W. Wasserman, Clara DM van Karnebeek

    Pubblicazione 2015
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  4. 4
    A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

    A novel recurrent mutation in ATP1A3 causes CAPOS syndrome di Michelle Demos, Clara DM van Karnebeek, Colin J.D. Ross, Shelin Adam, Yaoqing Shen, Shing H. Zhan, Casper Shyr, Gabriella Horváth, Mohnish Suri, Alan Fryer, Steven J.M. Jones, Jan M. Friedman

    Pubblicazione 2014
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  5. 5
    The genotypic and phenotypic spectrum of PIGA deficiency

    The genotypic and phenotypic spectrum of PIGA deficiency di Maja Tarailo‐Graovac, Graham Sinclair, Sylvia Stöckler‐Ipsiroglu, Margot Van Allen, Jacob Rozmus, Casper Shyr, Roberta Biancheri, Tracey Oh, Bryan Sayson, Mirafe Lafek, Colin J.D. Ross, Wendy P. Robinson, Wyeth W. Wasserman, Andrea Rossi, Clara DM van Karnebeek

    Pubblicazione 2015
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