Found: 2

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  • Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5086, doi. 10.1093/brain/awad314
    By:
    • Morgan, Angela T;
    • Scerri, Thomas S;
    • Vogel, Adam P;
    • Reid, Christopher A;
    • Quach, Mara;
    • Jackson, Victoria E;
    • McKenzie, Chaseley;
    • Burrows, Emma L;
    • Bennett, Mark F;
    • Turner, Samantha J;
    • Reilly, Sheena;
    • Horton, Sarah E;
    • Block, Susan;
    • Kefalianos, Elaina;
    • Frigerio-Domingues, Carlos;
    • Sainz, Eduardo;
    • Rigbye, Kristin A;
    • Featherby, Travis J;
    • Richards, Kay L;
    • Kueh, Andrew
    Publication type:
    Article

  • A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16819-z
    By:
    • Hildebrand, Joanne M.;
    • Kauppi, Maria;
    • Majewski, Ian J.;
    • Liu, Zikou;
    • Cox, Allison J.;
    • Miyake, Sanae;
    • Petrie, Emma J.;
    • Silk, Michael A.;
    • Li, Zhixiu;
    • Tanzer, Maria C.;
    • Brumatti, Gabriela;
    • Young, Samuel N.;
    • Hall, Cathrine;
    • Garnish, Sarah E.;
    • Corbin, Jason;
    • Stutz, Michael D.;
    • Di Rago, Ladina;
    • Gangatirkar, Pradnya;
    • Josefsson, Emma C.;
    • Rigbye, Kristin
    Publication type:
    Article