Works matching IS 10614036 AND DT 2005 AND VI 37 AND IP 12


Results: 24
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    Mutual inspiration.

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1297, doi. 10.1038/ng1205-1297
    Publication type:
    Article
    4

    SILencing misbehaving proteins.

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1302, doi. 10.1038/ng1205-1302
    By:
    • Zoghbi, Huda Y.
    Publication type:
    Article
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    Power tools for human genetics.

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1299, doi. 10.1038/ng1205-1299
    By:
    • Kruglyak, Leonid
    Publication type:
    Article
    8
    9

    Aging (not so) gracefully.

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1303, doi. 10.1038/ng1205-1303
    By:
    • Bickel, Sharon E.
    Publication type:
    Article
    10

    Touching base.

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1305, doi. 10.1038/ng1205-1305
    By:
    • M. A.;
    • E. N.;
    • A. P.
    Publication type:
    Article
    11

    Research Highlights.

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1307, doi. 10.1038/ng1205-1307
    By:
    • A. P.;
    • O. B.;
    • K. V.;
    • E. N.
    Publication type:
    Article
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    The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1309, doi. 10.1038/ng1677
    By:
    • Anttonen, Anna-Kaisa;
    • Mahjneh, Ibrahim;
    • Hämäläinen, Riikka H.;
    • Lagier-Tourenne, Clotilde;
    • Kopra, Outi;
    • Waris, Laura;
    • Anttonen, Mikko;
    • Joensuu, Tarja;
    • Kalimo, Hannu;
    • Paetau, Anders;
    • Tranebjaerg, Lisbeth;
    • Chaigne, Denys;
    • Koenig, Michel;
    • Eeg-Olofsson, Orvar;
    • Udd, Bjarne;
    • Somer, Mirja;
    • Somer, Hannu;
    • Lehesjoki, Anna-Elina
    Publication type:
    Article
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    Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect.

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1341, doi. 10.1038/ng1680
    By:
    • Monsuur, Alienke J.;
    • de Bakker, Paul I. W.;
    • Alizadeh, Behrooz Z.;
    • Zhernakova, Alexandra;
    • Bevova, Marianna R.;
    • Strengman, Eric;
    • Franke, Lude;
    • van't Slot, Ruben;
    • van Belzen, Martine J.;
    • Lavrijsen, Ineke C. M.;
    • Diosdado, Begoña;
    • Daly, Mark J.;
    • Mulder, Chris J. J.;
    • Mearin, M. Luisa;
    • Meijer, Jos W. R.;
    • Meijer, Gerrit A.;
    • van Oort, Erica;
    • Wapenaar, Martin C.;
    • Koeleman, Bobby P. C.;
    • Wijmenga, Cisca
    Publication type:
    Article
    21

    Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1345, doi. 10.1038/ng1681
    By:
    • Zenker, Martin;
    • Mayerle, Julia;
    • Lerch, Markus M.;
    • Tagariello, Andreas;
    • Zerres, Klaus;
    • Durie, Peter R.;
    • Beier, Matthias;
    • Hülskamp, Georg;
    • Guzman, Celina;
    • Rehder, Helga;
    • Beemer, Frits A.;
    • Hamel, Ben;
    • Vanlieferinghen, Philippe;
    • Gershoni-Baruch, Ruth;
    • Vieira, Marta W.;
    • Dumic, Miroslav;
    • Auslender, Ron;
    • Gil-da-Silva-Lopes, Vera L.;
    • Steinlicht, Simone;
    • Rauh, Manfred
    Publication type:
    Article
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    Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.

    Published in:
    Nature Genetics, 2005, v. 37, n. 12, p. 1312, doi. 10.1038/ng1678
    By:
    • Senderek, Jan;
    • Krieger, Michael;
    • Stendel, Claudia;
    • Bergmann, Carsten;
    • Moser, Markus;
    • Breitbach-Faller, Nico;
    • Rudnik-Schöneborn, Sabine;
    • Blaschek, Astrid;
    • Wolf, Nicole I.;
    • Harting, Inga;
    • North, Kathryn;
    • Smith, Janine;
    • Muntoni, Francesco;
    • Brockington, Martin;
    • Quijano-Roy, Susana;
    • Renault, Francis;
    • Herrmann, Ralf;
    • Hendershot, Linda M.;
    • Schröder, J. Michael;
    • Lochmüller, Hanns
    Publication type:
    Article