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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 ...

2 Division of Neurology, Marqués de Valdecilla University Hospital, University of Cantabria, Santander, Spain 3 Division of Neurology, University Hospital Antwerp (UZA), Antwerp, Belgium ...

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 ...

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 ...

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

1 Department of Clinical Genetics, Addenbrooke’s Hospital, Cambridge, UK 2 Department of Medicine, University of Cambridge, Addenbrooke’s Hospital Correspondence to: Dr S M Park Department of Clinical ...

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

An X-linked pattern of transmission observed in four families with familial mental retardation in several generations was associated with a probable secondary constriction at the distal end of the q ...

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 ...

Wilms tumour has been reported in association with over 50 different clinical conditions and several abnormal constitutional karyotypes. Conclusive evidence of an increased risk of Wilms tumour exists ...

Correspondence to Professor D Gareth Evans, Clinical Genetics, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK; gareth.evans{at}mft.nhs.uk Objectives Cases of sporadic vestibular ...