Works matching IS 03406717 AND DT 2013 AND VI 132 AND IP 11

Results: 12
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    Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.

    Published in:
    Human Genetics, 2013, v. 132, n. 11, p. 1265, doi. 10.1007/s00439-013-1326-z
    By:
    • Landowski, Michael;
    • O'Donohue, Marie-Françoise;
    • Buros, Christopher;
    • Ghazvinian, Roxanne;
    • Montel-Lehry, Nathalie;
    • Vlachos, Adrianna;
    • Sieff, Colin;
    • Newburger, Peter;
    • Niewiadomska, Edyta;
    • Matysiak, Michal;
    • Glader, Bertil;
    • Atsidaftos, Eva;
    • Lipton, Jeffrey;
    • Beggs, Alan;
    • Gleizes, Pierre-Emmanuel;
    • Gazda, Hanna
    Publication type:
    Article
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    Parkinson disease loci in the mid-western Amish.

    Published in:
    Human Genetics, 2013, v. 132, n. 11, p. 1213, doi. 10.1007/s00439-013-1316-1
    By:
    • Davis, M.;
    • Cummings, A.;
    • D'Aoust, L.;
    • Jiang, L.;
    • Velez Edwards, D.;
    • Laux, R.;
    • Reinhart-Mercer, L.;
    • Fuzzell, D.;
    • Scott, W.;
    • Pericak-Vance, M.;
    • Lee, S.;
    • Haines, J.
    Publication type:
    Article
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    10

    A novel rearrangement of occludin causes brain calcification and renal dysfunction.

    Published in:
    Human Genetics, 2013, v. 132, n. 11, p. 1223, doi. 10.1007/s00439-013-1327-y
    By:
    • LeBlanc, Marissa;
    • Penney, Lynette;
    • Gaston, Daniel;
    • Shi, Yuhao;
    • Aberg, Erika;
    • Nightingale, Mathew;
    • Jiang, Haiyan;
    • Gillett, Roxanne;
    • Fahiminiya, Somayyeh;
    • Macgillivray, Christine;
    • Wood, Ellen;
    • Acott, Philip;
    • Khan, M.;
    • Samuels, Mark;
    • Majewski, Jacek;
    • Orr, Andrew;
    • McMaster, Christopher;
    • Bedard, Karen
    Publication type:
    Article
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