Works matching IS 10184813 AND DT 2010 AND VI 18 AND IP 5

Results: 22
    1

    Menkes disease.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 5, p. 511, doi. 10.1038/ejhg.2009.187
    By:
    • Tümer, Zeynep;
    • Møller, Lisbeth B
    Publication type:
    Article
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    New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 5, p. 533, doi. 10.1038/ejhg.2009.207
    By:
    • Barat-Houari, Mouna;
    • Nguyen, Karine;
    • Bernard, Rafaëlle;
    • Fernandez, Céline;
    • Vovan, Catherine;
    • Bareil, Corinne;
    • Van Kien, Philippe Khau;
    • Thorel, Delphine;
    • Tuffery-Giraud, Sylvie;
    • Vasseur, Francis;
    • Attarian, Shahram;
    • Pouget, Jean;
    • Girardet, Anne;
    • Lévy, Nicolas;
    • Claustres, Mireille
    Publication type:
    Article
    6
    7

    Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 5, p. 539, doi. 10.1038/ejhg.2009.211
    By:
    • Wei Chen;
    • Ullmann, Reinhard;
    • Langnick, Claudia;
    • Menzel, Corinna;
    • Wotschofsky, Zofia;
    • Hu, Hao;
    • Döring, Andreas;
    • Yuhui Hu;
    • Hui Kang;
    • Tzschach, Andreas;
    • Hoeltzenbein, Maria;
    • Neitzel, Heidemarie;
    • Markus, Susanne;
    • Wiedersberg, Eberhard;
    • Kistner, Gerd;
    • van Ravenswaaij-Arts, Conny M. A.;
    • Kleefstra, Tjitske;
    • Kalscheuer, Vera M;
    • Ropers, Hans-Hilger
    Publication type:
    Article
    8
    9

    Italian appeal court: a genetic predisposition to commit murder?

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 5, p. 519, doi. 10.1038/ejhg.2010.31
    By:
    • Forzano, Francesca;
    • Borry, Pascal;
    • Cambon-Thomsen, Anne;
    • Hodgson, Shirley V.;
    • Tibben, Aad;
    • de Vries, Petrus;
    • van El, Carla;
    • Cornel, Martina
    Publication type:
    Article
    10

    Hexose-6-phosphate dehydrogenase: a new risk gene for multiple sclerosis.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 5, p. 618, doi. 10.1038/ejhg.2009.213
    By:
    • Alcina, Antonio;
    • Ramagopalan, Sreeram V.;
    • Fernández, Óscar;
    • Catalá-Rabasa, Antonio;
    • Fedetz, María;
    • Ndagire, Dorothy;
    • Leyva, Laura;
    • Arnal, Carmen;
    • Delgado, Concepción;
    • Lucas, Miguel;
    • Izquierdo, Guillermo;
    • Ebers, George C.;
    • Matesanz, Fuencisla
    Publication type:
    Article
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    Reply to Leao-Teles et al.

    Published in:
    2010
    By:
    • Morava, Eva;
    • Guillard, Maïlys;
    • Lefeber, Dirk J.;
    • Wevers, Ron A.
    Publication type:
    Letter
    15
    16

    CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 5, p. 544, doi. 10.1038/ejhg.2009.220
    By:
    • Hackett, Anna;
    • Tarpey, Patrick S.;
    • Licata, Andrea;
    • Cox, James;
    • Whibley, Annabel;
    • Boyle, Jackie;
    • Rogers, Carolyn;
    • Grigg, John;
    • Partington, Michael;
    • Stevenson, Roger E.;
    • Tolmie, John;
    • Yates, John R. W.;
    • Turner, Gillian;
    • Wilson, Meredith;
    • Futreal, Andrew P.;
    • Corbett, Mark;
    • Shaw, Marie;
    • Gecz, Jozef;
    • Raymond, F. Lucy;
    • Stratton, Michael R.
    Publication type:
    Article
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    Frequent genetic differences between matched primary and metastatic breast cancer provide an approach to identification of biomarkers for disease progression.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 5, p. 560, doi. 10.1038/ejhg.2009.230
    By:
    • Popławski, Andrzej B;
    • Jankowski, Michał;
    • Erickson, Stephen W;
    • Díaz de Ståhl, Teresita;
    • Partridge, E. Christopher;
    • Crasto, Chiquito;
    • Guo, Jingyu;
    • Gibson, John;
    • Menzel, Uwe;
    • Bruder, Carl E. G.;
    • Kaczmarczyk, Aneta;
    • Benetkiewicz, Magdalena;
    • Andersson, Robin;
    • Sandgren, Johanna;
    • Zegarska, Barbara;
    • Bała, Dariusz;
    • Śrutek, Ewa;
    • Allison, David B.;
    • Piotrowski, Arkadiusz;
    • Zegarski, Wojciech
    Publication type:
    Article
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