Browsing by Author "Loizidou, Maria A."
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Conference Object
The effects of applying cell-suppression and perturbation to aggregated genetic data
Antoniades, Athos; Keane, J.; Aristodimou, Aristos; Philipou, Christa; Constantinou, Andreas I.; Georgousopoulos, Christos; Tozzi, Federica; Kyriacou, Kyriacos C.; Hadjisavvas, Andreas; Loizidou, Maria A.; Demetriou, Christiana A.; Pattichis, Constantinos S. (2012)The key test for confidence in any association discovered within the medical domain is replication testing. That is, the ability of the association to be detected in independent populations. At the same time, in order to ...
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Article
Wide phenotypic variability in RSPH9-associated primary ciliary dyskinesia: review of a case-series from Cyprus
Yiallouros, Panayiotis K.; Kouis, Panayiotis; Pirpa, Panayiota; Michailidou, Kyriaki; Loizidou, Maria A.; Potamiti, Louiza; Kalyva, Margarita; Koutras, Giorgos; Kyriacou, Kyriacos; Hadjisavvas, Andreas (2019)Background: Primary ciliary dyskinesia (PCD) is an inherited ciliary motility disorder caused by mutations in at least 40 genes. RSPH9 gene mutations encoding aberrant radial spoke head proteins have been linked with PCD. ...