Found: 2

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  • Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome).

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1491, doi. 10.1002/ajmg.a.61566
    By:
    • Peretz, Ryan H.;
    • Flora, Christina H.;
    • Adams, Darius J.
    Publication type:
    Article

  • Phenotype delineation of ZNF462 related syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2075, doi. 10.1002/ajmg.a.61306
    By:
    • Kruszka, Paul;
    • Hu, Tommy;
    • Hong, Sungkook;
    • Signer, Rebecca;
    • Cogné, Benjamin;
    • Isidor, Betrand;
    • Mazzola, Sarah E.;
    • Giltay, Jacques C.;
    • Gassen, Koen L. I.;
    • England, Eleina M.;
    • Pais, Lynn;
    • Ockeloen, Charlotte W.;
    • Sanchez‐Lara, Pedro A.;
    • Kinning, Esther;
    • Adams, Darius J.;
    • Treat, Kayla;
    • Torres‐Martinez, Wilfredo;
    • Bedeschi, Maria F.;
    • Iascone, Maria;
    • Blaney, Stephanie
    Publication type:
    Article