Search Results - Pernille Mathiesen Tørring

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    Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review by Anna Trier Heiberg Brix, Pernille Mathiesen Tørring, Anette Bygum

    Published 2022
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  2. 2
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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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