Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 17


Results: 6
    1
    2

    Myofibrillar myopathy hallmarks associated with ZAK deficiency.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 17, p. 2751, doi. 10.1093/hmg/ddad113
    By:
    • Stonadge, Amy;
    • Genzor, Aitana V;
    • Russell, Alex;
    • Hamed, Mohamed F;
    • Romero, Norma;
    • Evans, Gareth;
    • Pownall, Betsy;
    • Bekker-Jensen, Simon;
    • Blanco, Gonzalo
    Publication type:
    Article
    3

    A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 17, p. 2681, doi. 10.1093/hmg/ddad094
    By:
    • Crane-Smith, Zoe;
    • Castro, Sandra C P De;
    • Nikolopoulou, Evanthia;
    • Wolujewicz, Paul;
    • Smedley, Damian;
    • Lei, Yunping;
    • Mather, Emma;
    • Santos, Chloe;
    • Hopkinson, Mark;
    • Pitsillides, Andrew A;
    • Consortium, Genomics England Research;
    • Finnell, Richard H;
    • Ross, M Elisabeth;
    • Copp, Andrew J;
    • Greene, Nicholas D E
    Publication type:
    Article
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    5
    6

    Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 17, p. 2717, doi. 10.1093/hmg/ddad100
    By:
    • Lucienne, Marie;
    • Gerlini, Raffaele;
    • Rathkolb, Birgit;
    • Calzada-Wack, Julia;
    • Forny, Patrick;
    • Wueest, Stephan;
    • Kaech, Andres;
    • Traversi, Florian;
    • Forny, Merima;
    • Bürer, Céline;
    • Aguilar-Pimentel, Antonio;
    • Irmler, Martin;
    • Beckers, Johannes;
    • Sauer, Sven;
    • Kölker, Stefan;
    • Dewulf, Joseph P;
    • Bommer, Guido T;
    • Hoces, Daniel;
    • Gailus-Durner, Valerie;
    • Fuchs, Helmut
    Publication type:
    Article