Publicacions en col·laboració amb investigadors/es de Essen University Hospital (5)

2024

  1. Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, Vol. 16, Núm. 2, pp. 211-217

2022

  1. Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome

    International Journal of Cardiovascular Imaging, Vol. 38, Núm. 11, pp. 2291-2302

2021

  1. Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

    Scientific Reports, Vol. 11, Núm. 1

  2. High rate of autonomic neuropathy in Cornelia de Lange Syndrome

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2020

  1. Evaluating face2gene as a tool to identify cornelia de lange syndrome by facial phenotypes

    International Journal of Molecular Sciences, Vol. 21, Núm. 3