1 Oxford Project To Investigate Memory and Ageing, Oxford Centre for Gene Function, University Department of Physiology, Anatomy and Genetics, Oxford, UK 2 Department of Haematology, School of ...

Two unrelated children presenting with mental and physical retardation and sulphur deficient brittle hair are reported. These are thought to be further cases of the autosomal recessive ...

Genetics Department, Boys Town National Research Hospital, Omaha, NE 68131. Usher syndrome is an autosomal recessive disorder characterised by retinitis pigmentosa and congenital sensorineural hearing ...

aInstitute of Human Genetics, Charité, Campus Virchow-Klinikum, Humboldt-University, Institut für Humangenetik, Chromosomendiagnostik, Molekulare Zytogenetik, Augustenburger Platz 1, D-13353 Berlin, ...

Canadian College of Medical Geneticists (CCMG) position statement on the storage of patient genetic and genomic information in electronic health records ...

We analysed rare variants in the non-coding RNU4-2 gene as a potential cause of neurodevelopmental disorder (NDD) and intellectual disability (ID) in a large cohort of individuals enriched for ...

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

Background Positron emission tomography-CT (PET-CT) is widely used to diagnose cardiac sarcoidosis (CS). Emerging evidence suggests genetic arrhythmogenic cardiomyopathies (ACMs) may similarly present ...

This May, the World Health Assembly (WHA) will vote on re-establishing a mandate for the WHO to address the health consequences of nuclear weapons and war.1 Health professionals and their associations ...

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Over 15 years have passed since the discovery of the first autoinflammatory gene, MEFV, responsible for familial Mediterranean fever. The identification of another gene, TNFRSF1A, in 1999 led to the ...