N. Goñi-Ros

Three novel variants in SOX10 gene: Waardenburg and PCWH syndromes

J. Gazulla, S. Izquierdo Álvarez, I. Ros Arnal, 2022, Egyptian Journal of Medical Human Genetics.

A novel likely pathogenic variant in the H1-4 gene c.139G > C p.(Ala47Pro) associated with Rahman syndrome: a clinical report

I. Sánchez-Navarro, S. I. Álvarez, R. González-Tarancón, 2022, Egyptian Journal of Medical Human Genetics.

Association Between VDR and CYP24A1 Polymorphisms, Atopic Dermatitis, and Biochemical Lipid and Vitamin D Profiles in Spanish Population: Case-Control Study

Á. Hernández-Martín, S. Izquierdo-Álvarez, Y. Gilaberte-Calzada, 2022, JMIR dermatology.