Publicacións en colaboración con investigadores/as de Hospital Vall d'Hebron (2)

2020

  1. Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

    Molecular Genetics and Genomic Medicine, Vol. 8, Núm. 11

2019

  1. Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis

    Gene, Vol. 689, pp. 227-234