Works matching IS 10614036 AND DT 2002 AND VI 32 AND IP 3


Results: 32
    1

    The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.

    Published in:
    Nature Genetics, 2002, v. 32, n. 3, p. 384, doi. 10.1038/ng1002
    By:
    • Howard, Heidi C.;
    • Mount, David B.;
    • Rochefort, Daniel;
    • Byun, Nellie;
    • Dupré, Nicolas;
    • Lu, Jianming;
    • Fan, Xuemo;
    • Song, Luyan;
    • Rivière, Jean-Baptiste;
    • Prévost, Claude;
    • Horst, Jürgen;
    • Simonati, Alessandro;
    • Lemcke, Beate;
    • Welch, Rick;
    • England, Roger;
    • Zhan, Frank Q.;
    • Mercado, Adriana;
    • Siesser, William B.;
    • George, Alfred L.;
    • McDonald, Michael P.
    Publication type:
    Article
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    Mutation of TBCE causes hypoparathyroidism–retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome.

    Published in:
    Nature Genetics, 2002, v. 32, n. 3, p. 448
    By:
    • Parvari, Ruti;
    • Hershkovitz, Eli;
    • Grossman, Nili;
    • Gorodischer, Rafael;
    • Loeys, Bart;
    • Zecic, Alexandra;
    • Mortier, Geert;
    • Gregory, Simon;
    • Sharony, Reuven;
    • Kambouris, Marios;
    • Sakati, Nadia;
    • Meyer, Brian F.;
    • Al Aqeel, Aida I.;
    • Al Humaidan, Abdul Karim;
    • Al Zanhrani, Fatma;
    • Al Swaid, Abdulrahman;
    • Al Othman, Johara;
    • Diaz, George A.;
    • Weiner, Rory;
    • Khan, K. Tahseen S.
    Publication type:
    Article
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    Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.

    Published in:
    Nature Genetics, 2002, v. 32, n. 3, p. 359, doi. 10.1038/ng1009
    By:
    • Kitamura, Kunio;
    • Yanazawa, Masako;
    • Sugiyama, Noriyuki;
    • Miura, Hirohito;
    • Iizuka-Kogo, Akiko;
    • Kusaka, Masatomo;
    • Omichi, Kayo;
    • Suzuki, Rika;
    • Kato-Fukui, Yuko;
    • Kamiirisa, Kyoko;
    • Matsuo, Mina;
    • Kamijo, Shin-ichi;
    • Kasahara, Megumi;
    • Yoshioka, Hidefumi;
    • Ogata, Tsutomu;
    • Fukuda, Takayuki;
    • Kondo, Ikuko;
    • Kato, Mitsuhiro;
    • Dobyns, William B.;
    • Yokoyama, Minesuke
    Publication type:
    Article
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    Ch-Ch-Changes.

    Published in:
    Nature Genetics, 2002, v. 32, n. 3, p. 334, doi. 10.1038/ng1102-334
    Publication type:
    Article
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    Shining a light on photolyases.

    Published in:
    Nature Genetics, 2002, v. 32, n. 3, p. 338, doi. 10.1038/ng1102-338
    By:
    • Menck, Carlos F.M.
    Publication type:
    Article
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    TOUCHINGbase.

    Published in:
    Nature Genetics, 2002, v. 32, n. 3, p. 343
    Publication type:
    Article
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