Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (12)

2025

  1. Erratum to ‘Cough severity visual analog scale scores and quality of life in patients with refractory or unexplained chronic cough’ [Respir Investig 62(6) (2024), 987–994, (S2212534524001266), (10.1016/j.resinv.2024.08.005)]

    Respiratory Investigation

2024

  1. Cough severity visual analog scale scores and quality of life in patients with refractory or unexplained chronic cough

    Respiratory Investigation, Vol. 62, Núm. 6, pp. 987-994

  2. Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review

    Pediatric Neurology, Vol. 155, pp. 8-17

2023

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

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

  2. Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy

    International Journal of Molecular Sciences, Vol. 24, Núm. 22

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

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

  4. Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy

    Pediatric Neurology, Vol. 144, pp. 11-15

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

2010

  1. Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency

    Human Mutation, Vol. 31, Núm. 8, pp. 930-941