Search Results - Eugen Boltshauser

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    Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report by Ingrid Bader, Nina McTiernan, Christine Darbakk, Eugen Boltshauser, Rasmus Ree, Sabine Ebner, Johannes A. Mayr, Thomas Arnesen

    Published 2020
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    Incidence and Characteristics of Cerebellar Atrophy/Volume Loss in Children with Confirmed Diagnosis of Tuberous Sclerosis Complex by Livja Mertiri, Eugen Boltshauser, Stephen F. Kralik, Nilesh K. Desai, Maarten H. Lequin, Thierry A. G. M. Huisman

    Published 2024
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