Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (6)

2023

  1. BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis

    Gastroenterology, Vol. 165, Núm. 1, pp. 162-172.e5

  2. Paediatric-onset generalized pustular psoriasis secondary to myeloperoxidase mutations

    Clinical and experimental dermatology, Vol. 48, Núm. 2, pp. 130-132

2022

  1. An updated view on human neonatal thermogenesis

    Nature Reviews Endocrinology

2021

  1. Sentinel lymph node biopsy vs. Observation in thin melanoma: A multicenter propensity score matching study

    Journal of Clinical Medicine, Vol. 10, Núm. 24

2015

  1. Restless legs syndrome in non-dialysis renal patients: Is it really that common?

    Journal of Clinical Sleep Medicine, Vol. 11, Núm. 1, pp. 57-60

2011

  1. Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant

    Journal of Child Neurology, Vol. 26, Núm. 6, pp. 734-737