Publicaciones en colaboración con investigadores/as de Universidad Autónoma de Madrid (116)

2022

  1. A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation

    Applied Neuropsychology: Child, Vol. 11, Núm. 4, pp. 921-927

  2. Anatomy of the conduction tissues 100 years on: what have we learned?

    Heart (British Cardiac Society), Vol. 108, Núm. 18, pp. 1430-1437

  3. Bi-Allelic c.1746G>T; p.Leu582 = Variants in TUBGCP4 in a boy with autism: Clinical data and literature review

    Molecular Syndromology, Vol. 13, Núm. 2, pp. 165-170

  4. Functional and structural deficiencies of Gemin5 variants associated with neurological disorders

    Life Science Alliance, Vol. 5, Núm. 7

  5. Miniseries 2-Septal and paraseptal accessory pathways-Part I: The anatomic basis for the understanding of para-Hisian accessory atrioventricular pathways

    Europace, Vol. 24, Núm. 4, pp. 639-649

  6. Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings

    Neurocase, Vol. 28, Núm. 1, pp. 11-18

  7. Neuropsychological deficits, symptom intensity and functional impairment in attention deficit hyperactivity disorder

    Medicina (Argentina), Vol. 82, pp. 23-27

  8. Phosphoproteomic analysis of neoadjuvant breast cancer suggests that increased sensitivity to paclitaxel is driven by CDK4 and filamin A

    Nature Communications, Vol. 13, Núm. 1

  9. The development of selective stopping: Qualitative and quantitative changes from childhood to early adulthood

    Developmental Science, Vol. 25, Núm. 5