Gavriella Mavrikiou

A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease

A. Drousiotou, L. Vilageliu, H. Michelakakis, 2020, Molecular genetics & genomic medicine.

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

C. Sismani, A. Drousiotou, G. Tanteles, 2016, Case reports in genetics.

Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene.

A. Drousiotou, Gavriella Mavrikiou, T. Georgiou, 2016, Clinical biochemistry.

The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis

A. Drousiotou, M. Jackson, G. Christopoulos, 2014, Meta gene.