Works matching IS 09646906 AND DT 2024 AND VI 33 AND IP 12


Results: 7
    1

    Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.

    Published in:
    Human Molecular Genetics, 2024, v. 33, n. 12, p. 1090, doi. 10.1093/hmg/ddae044
    By:
    • Wagenaar, Nathalie P de;
    • Bersselaar, Lisa M van den;
    • Odijk, Hanny J H M;
    • Stefens, Sanne J M;
    • Reinhardt, Dieter P;
    • Roos-Hesselink, Jolien W;
    • Kanaar, Roland;
    • Verhagen, Judith M A;
    • Brüggenwirth, Hennie T;
    • Laar, Ingrid M B H van de;
    • van der Pluijm, Ingrid;
    • Essers, Jeroen
    Publication type:
    Article
    2

    PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.

    Published in:
    Human Molecular Genetics, 2024, v. 33, n. 12, p. 1074, doi. 10.1093/hmg/ddae051
    By:
    • Martínez-Pizarro, Ainhoa;
    • Picó, Sara;
    • López-Márquez, Arístides;
    • Rodriguez-López, Claudia;
    • Montalvo, Elena;
    • Alvarez, Mar;
    • Castro, Margarita;
    • Ramón-Maiques, Santiago;
    • Pérez, Belén;
    • Lucas, José J;
    • Richard, Eva;
    • Desviat, Lourdes R
    Publication type:
    Article
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