Works matching IS 13646745 AND DT 2019 AND VI 20 AND IP 3

Results: 6
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    Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.

    Published in:
    Neurogenetics, 2019, v. 20, n. 3, p. 117, doi. 10.1007/s10048-019-00576-3
    By:
    • Tey, Shelisa;
    • Shahrizaila, Nortina;
    • Drew, Alexander P.;
    • Samulong, Sarimah;
    • Goh, Khean-Jin;
    • Battaloglu, Esra;
    • Atkinson, Derek;
    • Parman, Yesim;
    • Jordanova, Albena;
    • Chung, Ki Wha;
    • Choi, Byung-Ok;
    • Li, Yi-Chung;
    • Auer-Grumbach, Michaela;
    • Nicholson, Garth A.;
    • Kennerson, Marina L.;
    • Ahmad-Annuar, Azlina
    Publication type:
    Article
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    A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.

    Published in:
    Neurogenetics, 2019, v. 20, n. 3, p. 129, doi. 10.1007/s10048-019-00578-1
    By:
    • Beck, David B.;
    • Subramanian, T.;
    • Vijayalingam, S.;
    • Ezekiel, Uthayashankar R.;
    • Donkervoort, Sandra;
    • Yang, Michele L.;
    • Dubbs, Holly A.;
    • Ortiz-Gonzalez, Xilma R.;
    • Lakhani, Shenela;
    • Segal, Devorah;
    • Au, Margaret;
    • Graham, John M.;
    • Verma, Sumit;
    • Waggoner, Darrel;
    • Shinawi, Marwan;
    • Bönnemann, Carsten G.;
    • Chung, Wendy K.;
    • Chinnadurai, G.
    Publication type:
    Article