Search Results - Nina McTiernan

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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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    NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report by Nina McTiernan, Svein Isungset Støve, Ingvild Aukrust, Marita Torrisen Mårli, Line M. Myklebust, Gunnar Houge, Thomas Arnesen

    Published 2018
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