Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges

Autor Silvia Vidal, Clara Xiol, Ainhoa Pascual-Alonso, M. O’Callaghan, Mercè Pineda, Judith Armstrong
Vydáno 2019-08-01

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

Autor Dèlia Yubero, Núria Brandi, Aida Ormazabal, Àngels Garcia-Cazorla, Belén Pérez-Dueñas, Jaime Campistol, Antonia Ribes, Francesc Palau, Rafael Artuch, Judith Armstrong, Working Group
Vydáno 2016-01-01

Comprehensive Analysis of GABA_A-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease

Autor Alfonso Oyarzabal, Clara Xiol, Alba Aina Castells, Cristina Grau, Mar O’Callaghan, Guerau Fernández, Soledad Alcántara, Mercè Pineda, Judith Armstrong, Xavier Altafaj, Angels García-Cazorla
Vydáno 2020-01-01

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

Autor Virginia Pérez‐Grijalba, Alberto García‐Oguiza, María López, Judith Armstrong, Sixto García‐Miñaur, Jose María Mesa‐Latorre, Mar O'Callaghan, Mercé Pineda Marfa, Maria Antonia Ramos‐Arroyo, Fernando Santos‐Simarro, Verónica Seidel, Elena Domínguez‐Garrido
Vydáno 2019-11-01