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

by Maria López, Virginia Pérez‐Grijalba, Inmaculada García‐Cobaleda, Elena Domínguez‐Garrido
Published 2020-12-01

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

by María López, Alberto García-Oguiza, Judith Armstrong, Inmaculada García-Cobaleda, Sixto García-Miñaur, Fernando Santos-Simarro, Verónica Seidel, Elena Domínguez-Garrido
Published 2018-03-01