Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome

por Bryant, Carson J., Lorea, Cláudia F., de Almeida, Hiram Larangeira, Weinert, Letícia, Vedolin, Leonardo, Pinto e Vairo, Filippo, Baserga, Susan J.
Publicado 2021

Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series

por van Geest, Ferdy S, Meima, Marcel E, Stuurman, Kyra E, Wolf, Nicole I, van der Knaap, Marjo S, Lorea, Cláudia F, Poswar, Fabiano O, Vairo, Filippo, Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Bakhtiani, Priyanka, de Munnik, Sonja A, Peeters, Robin P, Visser, W Edward, Groeneweg, Stefan
Publicado 2020