De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome

بواسطة Ufartes, Roser, Berger, Hanna, Till, Katharina, Salinas, Gabriela, Sturm, Marc, Altmüller, Janine, Nürnberg, Peter, Thiele, Holger, Funke, Rudolf, Apeshiotis, Neophytos, Langen, Hendrik, Wollnik, Bernd, Borchers, Annette, Pauli, Silke
الحاوية / القاعدة Hum Genet (2020)