X. Estivill

Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.

X. Estivill, T. Meitinger, T. Strom, 2001, Molecular genetics and metabolism.

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation

X. Estivill, J. Mallolas, M. Milá, 1999, Human Genetics.

Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency.

X. Estivill, J. Dopazo, F. García-García, 2015, Gene.

Single-strand conformation polymorphism analysis in the FMR1 gene.

J. Mallolas, A. Barceló, A. Sánchez, 1999, American journal of medical genetics.