Publicacions en col·laboració amb investigadors/es de Universidad Católica San Antonio (9)

2021

  1. Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients

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

2019

  1. EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  2. High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

2016

  1. Acute intermittent porphyria in a paediatric population in the region of Murcia: Phenotype and prevalence

    Anales de Pediatria, Vol. 84, Núm. 2, pp. 114-115

2015

  1. Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 4, pp. 786-790

  2. Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 4, pp. 902-906

  3. Schinzel-Giedion syndrome: A new mutation in SETBP1

    Anales de Pediatria, Vol. 82, Núm. 1, pp. e12-e16

2014

  1. Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement

    Genomics, Vol. 103, Núm. 4, pp. 288-291

  2. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta

    American Journal of Medical Genetics, Part A, Vol. 164, Núm. 5, pp. 1136-1142