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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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

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 ...

Anotherfamilywiththe 'Habsburgjaw' FIG7 Thefather'smother. The featuresaresimilartotheother affectedfamilymembers,including mildlowereyelideversion. papilloedema,mildbilateralproptosis,andlimitation ...

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Objective: The prevalence and types of various cardiovascular diseases in different age groups as well as the outcomes of cardiac surgery and other interventions were assessed in a population of 75 ...

1 Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia 2 Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia 3 Department of ...