KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome

por Moreno-Igoa, María, Hernández-Charro, Blanca, Bengoa-Alonso, Amaya, Pérez-Juana-del-Casal, Aranzazu, Romero-Ibarra, Carlos, Nieva-Echebarria, Beatriz, Ramos-Arroyo, María Antonia
Publicado 2015

A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population

por Garcia-Solaesa, Virginia, Serrano-Lorenzo, Pablo, Ramos-Arroyo, Maria Antonia, Blázquez, Alberto, Pagola-Lorz, Inmaculada, Artigas-López, Mercè, Arenas, Joaquín, Martín, Miguel A., Jericó-Pascual, Ivonne
Publicado 2019

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients

por Pérez‐Grijalba, Virginia, García‐Oguiza, Alberto, López, María, Armstrong, Judith, García‐Miñaur, Sixto, Mesa‐Latorre, Jose María, O'Callaghan, Mar, Pineda Marfa, Mercé, Ramos‐Arroyo, Maria Antonia, Santos‐Simarro, Fernando, Seidel, Verónica, Domínguez‐Garrido, Elena
Publicado 2019

Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families—Performed in 12 Clinical Laboratories in Spain

por Tejada, María-Isabel, Glover, Guillermo, Martínez, Francisco, Guitart, Miriam, de Diego-Otero, Yolanda, Fernández-Carvajal, Isabel, Ramos, Feliciano J., Hernández-Chico, Concepción, Pintado, Elizabet, Rosell, Jordi, Calvo, María-Teresa, Ayuso, Carmen, Ramos-Arroyo, María-Antonia, Maortua, Hiart, Milà, Montserrat
Publicado 2014