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International Journal of Molecular Sciences|April 30, 2021
When the Balance Tips: Dysregulation of Mitochondrial Dynamics as a Culprit in DiseaseStyliana Kyriakoudi, Anthi Drousiotou, Petros P PetrouClinical Biochemistry|May 1, 2016
Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 geneGavriella Mavrikiou, Petros Petrou, Theodoros Georgiou, et al.Muscle & Nerve|June 3, 2015
Minimally symptomatic mcardle disease, expanding the genotype-phenotype spectrumPetros Petrou, Marios Pantzaris, Maria Dionysiou, et al.JIMD Reports|September 5, 2013
A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic AbnormalitiesRena Papachristoforou, Petros P Petrou, Hilary Sawyer, et al.Annals of Human Genetics|April 18, 2019
Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular studyRena Papachristoforou, Petros P Petrou, Hilary Sawyer, et al.International Journal of Molecular Sciences|March 1, 2020
Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid ContentKalia Kyriakou, Carsten W Lederer, Marina Kleanthous, et al.Human Molecular Genetics|April 6, 2006
Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophyKleopas A Kleopa, Anthi Drousiotou, Eleni Mavrikiou, et al.Journal of Child Neurology|March 29, 2005
Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosisAithala Gururaj, László Sztriha, Josef Hertecant, et al.Meta Gene|January 22, 2015
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 diagnosisTheodoros Georgiou, George Christopoulos, Violetta Anastasiadou, et al.Blood Cells, Molecules & Diseases|June 30, 2004
Molecular characterization of G6PD deficiency in CyprusAnthi Drousiotou, Elias H Touma, Nicoletta Andreou, et al.Pageof 4