Found: 2

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  • De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.

    Published in:
    Human Mutation, 2021, v. 42, n. 1, p. 66, doi. 10.1002/humu.24130
    By:
    • Itai, Toshiyuki;
    • Hamanaka, Kohei;
    • Sasaki, Kazunori;
    • Wagner, Matias;
    • Kotzaeridou, Urania;
    • Brösse, Ines;
    • Ries, Markus;
    • Kobayashi, Yu;
    • Tohyama, Jun;
    • Kato, Mitsuhiro;
    • Ong, Winnie P.;
    • Chew, Hui B.;
    • Rethanavelu, Kavitha;
    • Ranza, Emmanuelle;
    • Blanc, Xavier;
    • Uchiyama, Yuri;
    • Tsuchida, Naomi;
    • Fujita, Atsushi;
    • Azuma, Yoshiteru;
    • Koshimizu, Eriko
    Publication type:
    Article

  • CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.

    Published in:
    Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 1, p. 40, doi. 10.1002/mgg3.258
    By:
    • Leung, Gordon K. C.;
    • Ying, Dingge;
    • Mak, Christopher C. Y.;
    • Chen, Xin‐Ying;
    • Xu, Weiyi;
    • Yeung, Kit‐San;
    • Wong, Wai‐Lap;
    • Chu, Yoyo W. Y.;
    • Mok, Gary T. K.;
    • Chau, Christy S. K.;
    • McLuskey, Jenna;
    • Ong, Winnie P. T.;
    • Leong, Huey‐Yin;
    • Chan, Kelvin Y. K.;
    • Yang, Wanling;
    • Chen, Jeng‐Haur;
    • Li, Albert M.;
    • Sham, Pak C.;
    • Lau, Yu‐Lung;
    • Chung, Brian H. Y.
    Publication type:
    Article