Search Results - "Lodder, E.M"

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    Altered auto-phosphorylation of novel TNNI3K variants associated with AV-nodal re-entry tachycardia and conduction disease by Pham, C, Munoz-Martin, N, Podliesna, S, Milano, A, Beekman, L, Vermeer, A, Frantzen, C, Jansen, S, Van De Laar, I, Nieuwhof, K, Christiaans, I, Bezzina, C.R, Lodder, E.M

    Published in European heart journal (01-11-2020)
    “…Abstract Background In the past decade, we and others have reported three families with rare genetic variants in TNNI3K, encoding the cardiac-specific…”
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    Journal Article
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    Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1 by Lodder, E.M., Hoogeboom, A.J.M., Coert, J.H., de Graaff, E.

    “…Brachydactyly type A1 is a limb malformation characterized by a uniform shortening of the middle phalanges in all digits. Mutations in the Indian hedgehog…”
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    Journal Article
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