Works matching IS 10184813 AND DT 2003 AND VI 11

Results: 180
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    Introduction.

    Published in:
    European Journal of Human Genetics, 2003, v. 11, p. S1, doi. 10.1038/sj.ejhg.5201109
    By:
    • Aymé, Ségolène
    Publication type:
    Article
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    A high frequency of BRCA2 gene mutations in Polish families with ovarian and stomach cancer.

    Published in:
    European Journal of Human Genetics, 2003, v. 11, n. 12, p. 955, doi. 10.1038/sj.ejhg.5201064
    By:
    • Jakubowska, Anna;
    • Scott, Rodney;
    • Menkiszak, Janusz;
    • Gronwald, Jacek;
    • Byrski, Tomasz;
    • Huzarski, Tomasz;
    • Górski, Bohdan;
    • Cybulski, Cezary;
    • Dębniak, Tadeusz;
    • Kowalska, Elżbieta;
    • Starzyńska, Teresa;
    • Ławniczak, Małgorzata;
    • Narod, Steven;
    • Lubinski, Jan
    Publication type:
    Article
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    Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7?kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination.

    Published in:
    European Journal of Human Genetics, 2003, v. 11, n. 12, p. 931, doi. 10.1038/sj.ejhg.5201069
    By:
    • Ching-Shiang Chi;
    • Chi-Ren Tsai;
    • Liang-Hui Chen, Josseline;
    • Hsiu-Fen Lee, Josseline;
    • Betty Suk-Chun Mak, Josseline;
    • Shu-Hsuang Yang, Josseline;
    • Tsai-Yuh Wang, Josseline;
    • San-Ging Shu, Josseline;
    • Chao-Hui Chen, Josseline
    Publication type:
    Article
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    Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2.

    Published in:
    European Journal of Human Genetics, 2003, v. 11, n. 11, p. 835, doi. 10.1038/sj.ejhg.5201052
    By:
    • Zeiger, Joanna S.;
    • Hetmanski, Jacqueline B.;
    • Beaty, Terri H.;
    • VanderKolk, Craig A.;
    • Wyszynski, Diego F.;
    • Bailey-Wilson, Joan E.;
    • de Luna, Rosa Ortiz;
    • Perandones, Claudia;
    • Tolarova, Marie M.;
    • Mosby, Terezie;
    • Bennun, Ricardo;
    • Segovia, Mabel;
    • Calda, Pavel;
    • Pugh, Elizabeth W.;
    • Doheny, Kim;
    • McIntosh, Iain
    Publication type:
    Article
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    Evidence for a QTL on chromosome 19 influencing LDL cholesterol levels in the general population.

    Published in:
    European Journal of Human Genetics, 2003, v. 11, n. 11, p. 845, doi. 10.1038/sj.ejhg.5201053
    By:
    • Beekman, Marian;
    • Heijmans, Bastiaan T.;
    • Martin, Nicholas G.;
    • Whitfield, John B.;
    • Pedersen, Nancy L.;
    • DeFaire, Ulf;
    • Snieder, Harold;
    • Lakenberg, Nico;
    • Suchiman, H. Eka D.;
    • de Knijff, Peter;
    • Frants, Rune R.;
    • van Ommen, Gert Jan B;
    • Kluft, Cornelis;
    • Vogler, George P.;
    • Boomsma, Dorret I.;
    • Slagboom, P. Eline
    Publication type:
    Article
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    Is the novel SCKL3 at 14q23 the predominant Seckel locus?

    Published in:
    European Journal of Human Genetics, 2003, v. 11, n. 11, p. 851, doi. 10.1038/sj.ejhg.5201057
    By:
    • Kilinç, Mehmet Okyay;
    • Ninis, Vasiliki Ninidu;
    • Ugur, Sibel Aylin;
    • Tüysüz, Beyhan;
    • Seven, Mehmet;
    • Balci, Sevim;
    • Goodship, Judith;
    • Tolun, Aslihan
    Publication type:
    Article
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    Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

    Published in:
    European Journal of Human Genetics, 2003, v. 11, n. 11, p. 858, doi. 10.1038/sj.ejhg.5201050
    By:
    • Türkmen, Seval;
    • Gillessen-Kaesbach, Gabriele;
    • Meinecke, Peter;
    • Albrecht, Beate;
    • Neumann, Luitgard M.;
    • Hesse, Volker;
    • Palanduz, Sükrü;
    • Balg, Stefanie;
    • Majewski, Frank;
    • Fuchs, Sigrun;
    • Zschieschang, Petra;
    • Greiwe, Monika;
    • Mennicke, Kirsten;
    • Kreuz, Friedmar R.;
    • Dehmel, Harald J.;
    • Rodeck, Burkhard;
    • Kunze, Jürgen;
    • Tinschert, Sigrid;
    • Mundlos, Stefan;
    • Horn, Denise
    Publication type:
    Article
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    Meta and pooled analysis of European coeliac disease data.

    Published in:
    European Journal of Human Genetics, 2003, v. 11, n. 11, p. 828, doi. 10.1038/sj.ejhg.5201051
    By:
    • Babron, Marie-Claude;
    • Nilsson, Staffan;
    • Adamovic, Svetlana;
    • Naluai, Âsa Torinsson;
    • Wahlström, Jan;
    • Ascher, Henry;
    • Ciclitira, Paul J.;
    • Sollid, Ludvig M.;
    • Partanen, Jukka;
    • Greco, Luigi;
    • Clerget-Darpoux, Françoise
    Publication type:
    Article
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    Karyotyping of human synaptonemal complexes by cenM-FISH.

    Published in:
    European Journal of Human Genetics, 2003, v. 11, n. 11, p. 879, doi. 10.1038/sj.ejhg.5201067
    By:
    • Oliver-Bonet, Maria;
    • Liehr, Thomas;
    • Nietzel, Angela;
    • Heller, Anita;
    • Starke, Heike;
    • Claussen, Uwe;
    • Codina-Pascual, Montserrat;
    • Pujol, Aïda;
    • Abad, Carlos;
    • Egozcue, Josep;
    • Navarro, Joaquima;
    • Benet, Jordi
    Publication type:
    Article
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    The deleted in colorectal carcinoma (DCC) gene 201 R ? G polymorphism: no evidence for genetic association with autoimmune disease.

    Published in:
    European Journal of Human Genetics, 2003, v. 11, n. 11, p. 840, doi. 10.1038/sj.ejhg.5201059
    By:
    • Hall, Richard J.;
    • Merriman, Marilyn E.;
    • Green, Rachel A.;
    • Markham, Valerie H.;
    • Smyth, Deborah J.;
    • Heward, Joanne M.;
    • Jennings, Claire E.;
    • Braithwaite, Antony W.;
    • Cundy, Tim;
    • Darlow, Brian A.;
    • Gow, Peter J.;
    • Harrison, Andrew A.;
    • Highton, John;
    • Hunt, Penny J.;
    • Manning, Patrick;
    • Pokorny, Violetta;
    • Scott, Russell S.;
    • Taylor, Barry J.;
    • Willis, Jinny A.;
    • Yeoman, Sue
    Publication type:
    Article
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