Works matching IS 17558794 AND DT 2022 AND VI 15 AND IP 1

Results: 275
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    Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association.

    Published in:
    BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01422-6
    By:
    • Pelleri, Maria Chiara;
    • Locatelli, Chiara;
    • Mattina, Teresa;
    • Bonaglia, Maria Clara;
    • Piazza, Francesca;
    • Magini, Pamela;
    • Antonaros, Francesca;
    • Ramacieri, Giuseppe;
    • Vione, Beatrice;
    • Vitale, Lorenza;
    • Seri, Marco;
    • Strippoli, Pierluigi;
    • Cocchi, Guido;
    • Piovesan, Allison;
    • Caracausi, Maria
    Publication type:
    Article
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    Study protocol of the GLOW study: maximising treatment options for recurrent glioblastoma patients by whole genome sequencing-based diagnostics—a prospective multicenter cohort study.

    Published in:
    BMC Medical Genomics, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s12920-022-01343-4
    By:
    • van Opijnen, Mark P.;
    • Broekman, Marike L. D.;
    • de Vos, Filip Y. F.;
    • Cuppen, Edwin;
    • van der Hoeven, Jacobus J. M.;
    • van Linde, Myra E.;
    • Compter, Annette;
    • Beerepoot, Laurens V.;
    • van den Bent, Martin J.;
    • Vos, Maaike J.;
    • Fiebrich, Helle-Brit;
    • Koekkoek, Johan A. F.;
    • Hoeben, Ann;
    • Kho, Kuan H.;
    • Driessen, Chantal M. L.;
    • Jeltema, Hanne-Rinck;
    • Robe, Pierre A. J. T.;
    • Maas, Sybren L. N.
    Publication type:
    Article
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