Found: 2

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  • Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6.

    Published in:
    Clinical Genetics, 2022, v. 102, n. 3, p. 182, doi. 10.1111/cge.14173
    By:
    • Gerber, Céline B.;
    • Fliedner, Anna;
    • Bartsch, Oliver;
    • Berland, Siren;
    • Dewenter, Malin;
    • Haug, Marte;
    • Hayes, Ian;
    • Marin‐Reina, Purificacion;
    • Mark, Paul R.;
    • Martinez‐Castellano, Francisco;
    • Maystadt, Isabelle;
    • Karadurmus, Deniz;
    • Steindl, Katharina;
    • Wiesener, Antje;
    • Zweier, Markus;
    • Sticht, Heinrich;
    • Zweier, Christiane
    Publication type:
    Article

  • De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63559
    By:
    • Ha, Thoa;
    • Morgan, Angela;
    • Bartos, Meghan N.;
    • Beatty, Katelyn;
    • Cogné, Benjamin;
    • Braun, Dominique;
    • Gerber, Céline B.;
    • Gaspar, Harald;
    • Kopps, Anna M.;
    • Rieubland, Claudine;
    • Hurst, Anna C. E.;
    • Amor, David J.;
    • Nizon, Mathilde;
    • Pasquier, Laurent;
    • Pfundt, Rolph;
    • Reis, André;
    • Siu, Victoria Mok;
    • Tessarech, Marine;
    • Thompson, Michelle L.;
    • Vincent, Marie
    Publication type:
    Article