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

por Georgiou, Theodoros, Christopoulos, George, Anastasiadou, Violetta, Hadjiloizou, Stavros, Cregeen, David, Jackson, Marie, Mavrikiou, Gavriella, Kleanthous, Marina, Drousiotou, Anthi
Publicado 2014

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

por Malekkou, Anna, Sevastou, Ioanna, Mavrikiou, Gavriella, Georgiou, Theodoros, Vilageliu, Lluisa, Moraitou, Marina, Michelakakis, Helen, Prokopiou, Chrystalla, Drousiotou, Anthi
Publicado 2020

Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata

por Georgiou, Theodoros, Mavrikiou, Gavriella, Alexandrou, Angelos, Spanou-Aristidou, Elena, Savva, Isavella, Christodoulides, Theodoros, Krasia, Maria, Christophidou-Anastasiadou, Violetta, Sismani, Carolina, Drousiotou, Anthi, Tanteles, George A.
Publicado 2016