Works matching IS 03406199 AND DT 2016 AND VI 175 AND IP 5


Results: 17
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    A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.

    Published in:
    2016
    By:
    • Schernthaner-Reiter, Marie;
    • Adams, David;
    • Trivellin, Giampaolo;
    • Ramnitz, Mary;
    • Raygada, Margarita;
    • Golas, Gretchen;
    • Faucz, Fabio;
    • Nilsson, Ola;
    • Nella, Aikaterini;
    • Dileepan, Kavitha;
    • Lodish, Maya;
    • Lee, Paul;
    • Tifft, Cynthia;
    • Markello, Thomas;
    • Gahl, William;
    • Stratakis, Constantine;
    • Schernthaner-Reiter, Marie Helene;
    • Ramnitz, Mary Scott;
    • Faucz, Fabio R;
    • Nella, Aikaterini A
    Publication type:
    journal article
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