Publicaciones en las que colabora con Feliciano Jesús Ramos Fuentes (8)

2022

  1. Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches

    International journal of molecular sciences, Vol. 23, Núm. 17

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

    International Journal of Cardiovascular Imaging

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

  3. Targeted gene sequencing, bone health, and body composition in cornelia de lange syndrome

    Applied Sciences (Switzerland), Vol. 11, Núm. 2, pp. 1-11

2015

  1. Síndrome de osteoporosis con pseudoglioma

    Boletín de la Sociedad de Pediatría de Aragón, La Rioja y Soria, Vol. 45, Núm. 2, pp. 55-57

2014

  1. Could a patient with SMC1A duplication be classified as a human cohesinopathy?

    Clinical Genetics, Vol. 85, Núm. 5, pp. 446-451

2013

  1. Síndrome de Wiskott-Aldrichy patología autoinmune de inicio temprano

    Boletín de la Sociedad de Pediatría de Aragón, La Rioja y Soria, Vol. 43, Núm. 1, pp. 29-29