Alba Vilanova-Adell

Diagnostic strategies in patients with undiagnosed and rare diseases

J. Hoenicka, D. Casas-Alba, F. Palau, 2022, Journal of Translational Genetics and Genomics.

The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient.

J. Hoenicka, J. Armstrong, A. Arzimanoglou, 2022, European journal of medical genetics.