M. C. Martínez-Romero

High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

E. Guillén-Navarro, M. Barreda-Sánchez, V. López‐González, 2019, Orphanet Journal of Rare Diseases.

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

A. Torrelo, E. Guillén-Navarro, L. Noguera‐Morel, 2019, Orphanet Journal of Rare Diseases.

Dental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency

R. Rodríguez-López, C. Llena, E. Guillén-Navarro, 2023, Children.

R248G cystic fibrosis transmembrane conductance regulator mutation in three siblings presenting with recurrent acute pancreatitis and reproductive issues: a case series

S. Villalona, P. Mondéjar-López, M. Sánchez-Solís, 2017, Journal of Medical Case Reports.