Search Results - Rasmus Ree

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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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    A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly by Rasmus Ree, Anni Sofie Geithus, Pernille Mathiesen Tørring, Kristina Pilekær Sørensen, Mads Damkjær, DDD study, Sally Ann Lynch, Thomas Arnesen

    Published 2019
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