Goula Stylianidou

Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype

Carolina Sismani, Sofia Kitsiou‐Tzeli, Marios Ioannides et al. · Molecular Cytogenetics · 2008 · 124 citations · Full text

Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: Incidence, genetic variation, and stability

Philippos C. Patsalis, Carolina Sismani, Joe A. Hettinger et al. · American Journal of Medical Genetics · 1999 · 47 citations · Full text

Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches

Anthi Drousiotou, Rossana Mineri, Th Georgiou et al. · Clinical Genetics · 2010 · 39 citations

Metabolic Disorder, Neurological Disorder, Ethylmalonic Encephalopathy +17

The Arg482His Mutation in the β-Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village

Theodoros Georgiou, Goula Stylianidou, Violetta Anastasiadou et al. · Genetic Testing · 2005 · 24 citations · Full text

Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community

Anthi Drousiotou, Goula Stylianidou, Violetta Anastasiadou et al. · Human Genetics · 2000 · 20 citations

Biology, Genetics, Sandhoff Disease +4