A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report von Malekkou, Anna, Tomazou, Marios, Mavrikiou, Gavriella, Dionysiou, Maria, Georgiou, Theodoros, Papaevripidou, Ioannis, Alexandrou, Angelos, Sismani, Carolina, Drousiotou, Anthi, Grafakou, Olga, Petrou, Petros P

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A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease von Malekkou, Anna, Sevastou, Ioanna, Mavrikiou, Gavriella, Georgiou, Theodoros, Vilageliu, Lluisa, Moraitou, Marina, Michelakakis, Helen, Prokopiou, Chrystalla, Drousiotou, Anthi

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Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata von Drousiotou, Anthi, Tanteles, George A., Sismani, Carolina, Krasia, Maria, Christodoulides, Theodoros, Savva, Isavella, Spanou-Aristidou, Elena, Alexandrou, Angelos, Mavrikiou, Gavriella, Georgiou, Theodoros, Anastasiadou, Violetta

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Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene von Mavrikiou, Gavriella, Petrou, Petros, Georgiou, Theodoros, Drousiotou, Anthi

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

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