Works by Hu, Ying


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    Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.

    Published in:
    Human Mutation, 2020, v. 41, n. 2, p. 403, doi. 10.1002/humu.23938
    By:
    • Bryen, Samantha J.;
    • Ewans, Lisa J.;
    • Pinner, Jason;
    • MacLennan, Suzanna C.;
    • Donkervoort, Sandra;
    • Castro, Diana;
    • Töpf, Ana;
    • O'Grady, Gina;
    • Cummings, Beryl;
    • Chao, Katherine R.;
    • Weisburd, Ben;
    • Francioli, Laurent;
    • Faiz, Fathimath;
    • Bournazos, Adam M.;
    • Hu, Ying;
    • Grosmann, Carla;
    • Malicki, Denise M.;
    • Doyle, Helen;
    • Witting, Nanna;
    • Vissing, John
    Publication type:
    Article
    45

    Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability.

    Published in:
    Human Mutation, 2015, v. 36, n. 1, p. 48, doi. 10.1002/humu.22691
    By:
    • Donkervoort, Sandra;
    • Hu, Ying;
    • Stojkovic, Tanya;
    • Voermans, Nicol C.;
    • Foley, A. Reghan;
    • Leach, Meganne E.;
    • Dastgir, Jahannaz;
    • Bolduc, Véronique;
    • Cullup, Thomas;
    • Becdelièvre, Alix;
    • Yang, Lin;
    • Su, Hai;
    • Meilleur, Katherine;
    • Schindler, Alice B.;
    • Kamsteeg, Erik‐Jan;
    • Richard, Pascale;
    • Butterfield, Russell J.;
    • Winder, Thomas L.;
    • Crawford, Thomas O.;
    • Weiss, Robert B.
    Publication type:
    Article
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