Strabismus (misalignment of the eyes; also known as “squint”) comprises a common heterogeneous group of disorders characterised by a constant or intermittent ocular deviation often associated with ...

*Department of Optometry and Vision Sciences, University of Wales, Redwood Building, King Edward VII Avenue, PO Box 905, Cardiff CF1 3XF, UK †Department of Psychological Medicine, University of Wales, ...

Background Whole genome sequencing (WGS) has recently been introduced as a diagnostic test for patients with particular rare diseases in the National Health Service (NHS) in England. Little is known ...

Introduction: Myopathy, encephalopathy, lactic acidosis, and stroke-like (MELAS) syndrome, a maternally inherited disorder that is among the most common mitochondrial DNA (mtDNA) diseases, is usually ...

*Department of Medical Genetics, Haartman Institute, PO Box 21 (Haartmaninkatu 3), FIN-00014 University of Helsinki, Helsinki, Finland †Finnish Genome Centre, PO Box 21 (Tukholmankatu 2), FIN-00014 ...

4 Division of Nephrology and Dialysis, Department of Laboratory Medicine, Bambino Gesu’ Hospital, Rome, Italy 5 Molecular Medicine Unit, Department of Laboratory Medicine, Bambino Gesu’ Hospital, Rome ...