Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 4

Results: 14
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    Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 4, p. 829, doi. 10.1093/hmg/ddx012
    By:
    • Ludwig, Kerstin U.;
    • Böhmer, Anne C.;
    • Bowes, John;
    • Nikolić, Miloš;
    • Ishorst, Nina;
    • Wyatt, Niki;
    • Hammond, Nigel L.;
    • Gölz, Lina;
    • Thieme, Frederic;
    • Barth, Sandra;
    • Schuenke, Hannah;
    • Klamt, Johanna;
    • Spielmann, Malte;
    • Aldhorae, Khalid;
    • Rojas-Martinez, Augusto;
    • Nöthen, Markus M.;
    • Rada-Iglesias, Alvaro;
    • Dixon, Michael J.;
    • Knapp, Michael;
    • Mangold, Elisabeth
    Publication type:
    Article
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    A population-based analysis of germline BAP1 mutations in melanoma.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 4, p. 717, doi. 10.1093/hmg/ddw403
    By:
    • O'Shea, Sally J.;
    • Robles-Espinoza, Carla Daniela;
    • McLellan, Lauren;
    • Harrigan, Jeanine;
    • Jacq, Xavier;
    • Hewinson, James;
    • Iyer, Vivek;
    • Merchant, Will;
    • Elliott, Faye;
    • Harland, Mark;
    • Bishop, D. Timothy;
    • Newton-Bishop, Julia A.;
    • Adams, David J.
    Publication type:
    Article
    11

    Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 4, p. 702, doi. 10.1093/hmg/ddw431
    By:
    • Friederich, Marisa W.;
    • Erdogan, Alican J.;
    • Coughlin II, Curtis R.;
    • Elos, Mihret T.;
    • Hua Jiang;
    • O'Rourke, Courtney P.;
    • Lovell, Mark A.;
    • Wartchow, Eric;
    • Gowan, Katherine;
    • Chatfield, Kathryn C.;
    • Chick, Wallace S.;
    • Spector, Elaine B.;
    • Van Hove, Johan L. K.;
    • Riemer, Jan
    Publication type:
    Article
    12

    Mutant Profilin1 transgenic mice recapitulate cardinal features of motor neuron disease.

    Published in:
    Human Molecular Genetics, 2017, v. 26, n. 4, p. 686, doi. 10.1093/hmg/ddw429
    By:
    • Fil, Daniel;
    • DeLoach, Abigail;
    • Yadav, Shilpi;
    • Alkam, Duah;
    • MacNicol, Melanie;
    • Singh, Awantika;
    • Compadre, Cesar M.;
    • Goellner, Joseph J.;
    • O'Brien, Charles A.;
    • Fahmi, Tariq;
    • Basnakian, Alexei G.;
    • Calingasan, Noel Y.;
    • Klessner, Jodi L.;
    • Beal, Flint M.;
    • Peters, Owen M.;
    • Metterville, Jake;
    • Brown Jr, Robert H.;
    • Ling, Karen K. Y.;
    • Rigo, Frank;
    • Ozdinler, P. Hande
    Publication type:
    Article
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