Found: 2

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  • Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.

    Published in:
    Human Genetics, 2015, v. 134, n. 6, p. 577, doi. 10.1007/s00439-015-1541-x
    By:
    • Basel-Vanagaite, Lina;
    • Smirin-Yosef, Pola;
    • Essakow, Jenna;
    • Tzur, Shay;
    • Lagovsky, Irina;
    • Maya, Idit;
    • Pasmanik-Chor, Metsada;
    • Yeheskel, Adva;
    • Konen, Osnat;
    • Orenstein, Naama;
    • Weisz Hubshman, Monika;
    • Drasinover, Valerie;
    • Magal, Nurit;
    • Peretz Amit, Gaby;
    • Zalzstein, Yael;
    • Zeharia, Avraham;
    • Shohat, Mordechai;
    • Straussberg, Rachel;
    • Monté, Didier;
    • Salmon-Divon, Mali
    Publication type:
    Article

  • Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting.

    Published in:
    Prenatal Diagnosis, 2010, v. 30, n. 12/13, p. 1131, doi. 10.1002/pd.2626
    By:
    • Maya, Idit;
    • Davidov, Bella;
    • Gershovitz, Liron;
    • Zalzstein, Yael;
    • Taub, Ellen;
    • Coppinger, Justine;
    • Shaffer, Lisa G.;
    • Shohat, Mordechai
    Publication type:
    Article