Producción científica de los miembros del grupo
Artículos
- Gene variants in the NF-KB pathway (NFKB1, NFKBIA, NFKBIZ) and their association with type 2 diabetes and impaired renal function [2018]
- X-linked hypophosphatemia and growth [2017]
- Treponemal disease in the old world? Integrated palaeopathological assessment of a 9th-11th century skeleton from north-central Spain [2017]
- Treponemal disease in the old world? Integrated palaeopathological assessment of a 9th-11th century skeleton from north-central Spain [2017]
- Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients [2017]
Tesis
- Diagnóstico molecular en las anomalías vasculares congénitas y su repercusión terapéutica [2018]
- Crecimiento longitudinal, morfológica y dinámica del cartílago de crecimiento, estructura ósea y metabolismo del fósforo en el ratón Hyp. Efecto de diversas estrategias terapéuticas;Longitudinal growth, morphology and dynamics of growth cartilage, osseous structure and phosphorus metabolism in the Hyp mouse. Effect of several therapeutic strategies [2018]
- Correlación fenotipo/genotipo en la miocardiopatía hipertrófica y miocardiopatía no compactada [2018]
- Variación en los genes de las interleukimas 12/23 y riesgo de Psoriasis Vulgaris [2017]
- Miocardiopatía hipertrófica: Identificación de nuevos genes mediante técnicas de secuenciación masiva [2017]
Ponencias
- Long-term follow-up of Gitelman Syndrome diagnosed in children [2018]
- Long-term follow-up of distal renal tubular acidosis diagnosed in children [2018]
- Phenotypical differences in patients with distal renal tubular acidosis classified according to the underlying gene defect [2017]
- Long term follow-up of patients with primary tubulopathies: gitelman syndrome (gs) and distal renaltubular acidosis (drta) [2017]
- X linked hypophosphatemia (xlh) and growth: gh and mapki treatments [2016]
