Publications by the researcher in collaboration with María del Carmen Gómez Lado (9)

2023

  1. Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders

    Cytogenetic and genome research, Vol. 163, Núm. 5-6, pp. 301-306

2020

  1. Clinical and neurophysiological response to ephedrine in a patient affected with slow-channel congenital myasthenic syndrome

    Revista de Neurologia, Vol. 71, Núm. 6, pp. 221-224

2019

  1. Mutación de novo en heterocigosis en el gen MBD5 asociada a heterotopía en banda bilateral y polimicrogiria

    Revista de neurologia, Vol. 69, Núm. 12, pp. 492-496

2018

  1. Hypomyelinating leukodystrophy type 6. Clinical and neuroimaging key features in the detection of a new case

    Revista de Neurologia, Vol. 67, Núm. 9, pp. 339-342

2017

  1. Copy number variation analysis of patients with intellectual disability from North-West Spain

    Gene, Vol. 626, pp. 189-199

2015

  1. Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 12, pp. 3113-3120

2013

  1. A Xq21.31 duplication without features of Prader-Willi syndrome

    Endocrine

  2. Microdeleción 16p11.2 asociada a convulsiones benignas de la primera infancia

    Revista de Neurologia

  3. Microdeleción 2q23.1 y hallazgos sindrómicos

    Revista de Neurologia