Clinical Cancer Genetics and Human Cancer Genetics Programs, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, The Ohio State University, 420 W 12th Avenue ...

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Angelman syndrome ( AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a ...

The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism ...

Correspondence to: Professor Moore Institute of Ophthalmology, University College London, 11–43 Bath Street, London EC1V 9EL, UK; tony.moore{at}ucl.ac.uk The inherited macular dystrophies comprise a ...

We studied a large data set from three registries of congenital malformations (central-east France, Sweden, and California), a total of 954 cases, known chromosome anomalies excluded. The prevalence ...

a Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK, b Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160, ...

Victorian Clinical Genetics Service, Royal Children’s Hospital, Flemington Road, Parkville, Melbourne, Victoria 3052, Australia Cytogenetic Services Victoria, 165 Burwood Road, Hawthorn, Victoria 3122 ...

OBJECTIVES To determine the natural history of Anderson-Fabry disease (AFD) as a baseline for efficacy assessment of potentially therapeutic drugs. DESIGN The first large cross sectional study of a ...

* Members of the consortia are listed in the Supplemental Appendix. Background The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum ...

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 ...

Correspondence to: Prof. J Poulton Nuffield Department of Obstetrics and Gynaecology, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK; joanna.poultonobstetrics-gynaecology.oxford.ac.uk ...