Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study

מאת Merino, Sonia, Ibarluzea, Nekane, Maortua, Hiart, Prieto, Begoña, Rouco, Idoia, López-Aríztegui, Maria-Asunción, Tejada, Maria-Isabel
הוצא לאור ב Genes (Basel) (2016)

CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain

מאת Maortua, Hiart, Martínez-Bouzas, Cristina, Calvo, María-Teresa, Domingo, Maria-Rosario, Ramos, Feliciano, García-Ribes, Ainhoa, Martínez, María-Jesús, López-Aríztegui, María-Asunción, Puente, Nerea, Rubio, Izaskun, Tejada, María-Isabel
יצא לאור 2012