V. López-González

A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia

E. Guillén-Navarro, M. Moya-Quiles, M. Ballesta-Martínez, 2010, Archives of Dermatological Research.

[Schinzel-Giedion syndrome: a new mutation in SETBP1].

E. Guillén-Navarro, L. Burglen, S. Whalen, 2015, Anales de pediatria.

Further refinement of COL4A1 and COL4A2 related cortical malformations.

N. Boddaert, L. Pasquier, J. Chelly, 2018, European journal of medical genetics.

New case with the recurrent c.625G>A pathogenic variant in the PACS2 gene: expanding the phenotype.

E. Guillén-Navarro, M. J. Sánchez-Soler, A. T. Serrano-Antón, 2021, Neurología.

New case with the recurrent c.635G>A pathogenic variant in the PACS2 gene: Expanding the phenotype.

E. Guillén-Navarro, M. J. Sánchez-Soler, A. T. Serrano-Antón, 2021, Neurologia.

Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation

M. Campo, J. Corral, V. Vicente, 2018, Pediatric Research.