1 Department of Endocrinology and Metabolism, Amsterdam Lysosome Center ‘Sphinx’, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands 2 Laboratory of Genetic Metabolic ...

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We report on the association of absent patellae, genital and renal anomalies, dysmorphic features, and mental retardation in seven children (six boys and one girl) belonging to five unrelated families ...

Whole-genome sequencing (WGS) for every UK newborn is hailed as a leap towards lifelong personalised medicine, yet policymakers have scarcely examined the informatics iceberg beneath the initiative: ...

1 Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, California, USA 2 Department of Psychiatry and Department of Preventive Medicine, Keck School ...

a Vitreoretinal Service, Department of Ophthalmology, Box 41, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2QQ, UK, b Department of Medical Genetics, University of Cambridge, Box 134, Addenbrooke ...

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 ...

Bipolar disorder (also known as manic depressive illness) is a complex genetic disorder in which the core feature is pathological disturbance in mood (affect) ranging from extreme elation, or mania, ...

Department of Pathology, State University of New York-Downstate Medical Center, Brooklyn, NY, USA ...

A family is described in which the father and his two children had Robinow syndrome, but with no consistent brachymelia or dwarfism. Two further sporadic cases are described, one with rhizomelic ...

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 ...

*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, ...