Works matching IS 10614036 AND DT 2004 AND VI 36 AND IP 6


Results: 30
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    Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.

    Published in:
    Nature Genetics, 2004, v. 36, n. 6, p. 597, doi. 10.1038/ng1328
    By:
    • Irobi, Joy;
    • Van Impe, Katrien;
    • Seeman, Pavel;
    • Jordanova, Albena;
    • Dierick, Ines;
    • Verpoorten, Nathalie;
    • Michalik, Andrej;
    • De Vriendt, Els;
    • Jacobs, An;
    • Van Gerwen, Veerle;
    • Vennekens, Krist'l;
    • Mazanec, Radim;
    • Tournev, Ivailo;
    • Hilton-Jones, David;
    • Talbot, Kevin;
    • Kremensky, Ivo;
    • Van Den Bosch, Ludo;
    • Robberecht, Wim;
    • Vandekerckhove, Joël;
    • Van Broeckhoven, Christine
    Publication type:
    Article
    3
    4

    A public gene trap resource for mouse functional genomics.

    Published in:
    2004
    By:
    • Skarnes, William C.;
    • von Melchner, Harald;
    • Wurst, Wolfgang;
    • Hicks, Geoff;
    • Nord, Alex S.;
    • Cox, Tony;
    • Young, Stephen G.;
    • Ruiz, Patricia;
    • Soriano, Phil;
    • Tessier-Lavigne, Marc;
    • Conklin, Bruce R.;
    • Stanford, William L.;
    • Rossant, Janet
    Publication type:
    Letter
    5

    Human genes that limit AIDS.

    Published in:
    Nature Genetics, 2004, v. 36, n. 6, p. 565, doi. 10.1038/ng1369
    By:
    • O'Brien, Stephen J.;
    • Nelson, George W.
    Publication type:
    Article
    6

    Touching Base.

    Published in:
    Nature Genetics, 2004, v. 36, n. 6, p. 555, doi. 10.1038/ng0604-555
    By:
    • Packer, Alan;
    • Stebbins, Michael
    Publication type:
    Article
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    Shocking degeneration.

    Published in:
    Nature Genetics, 2004, v. 36, n. 6, p. 547, doi. 10.1038/ng0604-547
    By:
    • Benndorf, Rainer;
    • Welsh, Michael J.
    Publication type:
    Article
    12

    Sex and the genome.

    Published in:
    Nature Genetics, 2004, v. 36, n. 6, p. 548, doi. 10.1038/ng0604-548
    By:
    • Reinke, Valerie
    Publication type:
    Article
    13

    Fine-tuning PU.1.

    Published in:
    Nature Genetics, 2004, v. 36, n. 6, p. 550, doi. 10.1038/ng0604-550
    By:
    • Stirewalt, Derek L.
    Publication type:
    Article
    14

    Plzf pushes stem cells.

    Published in:
    Nature Genetics, 2004, v. 36, n. 6, p. 551, doi. 10.1038/ng0604-551
    By:
    • Kotaja, Noora;
    • Sassone-Corsi, Paolo
    Publication type:
    Article
    15
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    Research Notes.

    Published in:
    Nature Genetics, 2004, v. 36, n. 6, p. 557, doi. 10.1038/ng0604-557
    By:
    • Axton, Myles;
    • Packer, Alan;
    • Stebbins, Michael
    Publication type:
    Article
    18
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    Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

    Published in:
    Nature Genetics, 2004, v. 36, n. 6, p. 602, doi. 10.1038/ng1354
    By:
    • Evgrafov, Oleg V.;
    • Mersiyanova, Irena;
    • Irobi, Joy;
    • Van Den Bosch, Ludo;
    • Dierick, Ines;
    • Leung, Conrad L.;
    • Schagina, Olga;
    • Verpoorten, Nathalie;
    • Van Impe, Katrien;
    • Fedotov, Valeriy;
    • Dadali, Elena;
    • Auer-Grumbach, Michaela;
    • Windpassinger, Christian;
    • Wagner, Klaus;
    • Mitrovic, Zoran;
    • Hilton-Jones, David;
    • Talbot, Kevin;
    • Martin, Jean-Jacques;
    • Vasserman, Natalia;
    • Tverskaya, Svetlana
    Publication type:
    Article
    20
    21

    Mutations in SEC63 cause autosomal dominant polycystic liver disease.

    Published in:
    Nature Genetics, 2004, v. 36, n. 6, p. 575, doi. 10.1038/ng1357
    By:
    • Davila, Sonia;
    • Furu, Laszlo;
    • Gharavi, Ali G.;
    • Tian, Xin;
    • Onoe, Tamehito;
    • Qian, Qi;
    • Li, Airong;
    • Cai, Yiqiang;
    • Kamath, Patrick S.;
    • King, Bernard F.;
    • Azurmendi, Pablo J.;
    • Tahvanainen, Pia;
    • Kääriäinen, Helena;
    • Krister Höckerstedt;
    • Olivier Devuyst;
    • Yves Pirson;
    • Rodolfo S. Martin;
    • Richard P. Lifton;
    • Esa Tahvanainen;
    • Vicente E. Torres
    Publication type:
    Article
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    Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

    Published in:
    Nature Genetics, 2004, v. 36, n. 6, p. 631, doi. 10.1038/ng1364
    By:
    • Krantz, Ian D.;
    • McCallum, Jennifer;
    • DeScipio, Cheryl;
    • Kaur, Maninder;
    • Gillis, Lynette A.;
    • Yaeger, Dinah;
    • Jukofsky, Lori;
    • Wasserman, Nora;
    • Bottani, Armand;
    • Morris, Colleen A.;
    • Nowaczyk, Malgorzata J. M.;
    • Toriello, Helga;
    • Bamshad, Michael J.;
    • Carey, John C.;
    • Rappaport, Eric;
    • Kawauchi, Shimako;
    • Lander, Arthur D.;
    • Calof, Anne L.;
    • Hui-Hua Li;
    • Devoto, Marcella
    Publication type:
    Article
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