A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data

por López, Maria, Pérez‐Grijalba, Virginia, García‐Cobaleda, Inmaculada, Domínguez‐Garrido, Elena
Publicado 2020

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

por López, María, García-Oguiza, Alberto, Armstrong, Judith, García-Cobaleda, Inmaculada, García-Miñaur, Sixto, Santos-Simarro, Fernando, Seidel, Verónica, Domínguez-Garrido, Elena
Publicado 2018