2019

1. Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study

   European journal of endocrinology, Vol. 180, Núm. 1, pp. 59-70

2. Variable phenotype in HNF1B mutations: Extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract

   Clinical Kidney Journal, Vol. 12, Núm. 3, pp. 373-379