KIAA1109 variants are associated with a severe disorder of brain development and arthrogryposis

由 Roechert, Bernd, Van Hasselt, Peter M., Monroe, Glen R., Lai, Angeline Hwei Meeng, Ambusaidi Qamariya, Ambrozaitytė, Laima, Preikšaitienė, Eglė, Gueneau, Lucie, Tran-Mau-Them, Frédéric, Fish, Richard J., Shamseldin, Hanan E., Voisin, Norine, Allias, Fabienne, Jamuar Saumya Shekhar, Lim, J. Ying, Bonnard, Carine, Wright, Caroline F., Putoux, Audrey, Cimbalistienė, Loreta, Delafontaine, Julien, Guex, Nicolas, Hashem Mais, Kurdi Wesam, Pradervand, Sylvain, Reversade, Bruno, Xenarios, Ioannis, Lesca, Gaëtan, Pippucci, Tommaso, Wiederkehr, Michaël, Van Haaften, Gijs W., Shaw-Smith, Charles J., Schindewolf, Erica M., Reymond, Alexandre, Sanlaville, Damien, Guibaud, Laurent, Kučinskas, Vaidutis, Chelly, Jamel, Alkuraya, Fowzan S.
出版 2019