Paula Pacheco

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study

X. Estivill, T. Dörk, C. Clavel, 2001 .

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

X. Estivill, T. Dörk, C. Clavel, 2001, Journal of Medical Genetics.