FERNANDO
SANTOS RODRIGUEZ

Investigador/a

Foto de FERNANDO

Foto de Laura

Laura
Espinosa Román

Publicaciones en las que colabora con Laura Espinosa Román (5)

2021

Correction to: Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population (Orphanet Journal of Rare Diseases, (2021), 16, 1, (104), 10.1186/s13023-021-01729-0)
Orphanet Journal of Rare Diseases
Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2013

Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis
PLoS ONE, Vol. 8, Núm. 1

2011

Gitelman syndrome in Gypsy paediatric patients carrying the same intron 9 + 1 G>T mutation. Clinical features and impact on quality of life
Nephrology Dialysis Transplantation, Vol. 26, Núm. 1, pp. 151-155

2007

A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease
Journal of Human Genetics, Vol. 52, Núm. 3, pp. 255-261