Works matching IS 09646906 AND DT 2025 AND VI 34 AND IP 10


Results: 10
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    A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling Open Access.

    Published in:
    Human Molecular Genetics, 2025, v. 34, n. 10, p. 894, doi. 10.1093/hmg/ddaf035
    By:
    • Zwartkruis, Maria M;
    • Pagter, Mirjam S de;
    • Gommers, Demi;
    • Koopmans, Marije;
    • Ottenheim, Cecile P E;
    • Kortooms, Joris V;
    • Albring, Mirjan;
    • Elferink, Martin G;
    • Wadman, Renske I;
    • Asselman, Fay-Lynn;
    • Cuppen, Inge;
    • Pol, W Ludo van der;
    • Nelen, Marcel R;
    • Haaften, Gijs W van;
    • Groen, Ewout J N
    Publication type:
    Article
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