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Correspondence to Dr Louis C S Tan, Department of Neurology, National Neuroscience Institute, Singapore ; louis_tan{at}nni.com.sg and Dr Eng-King Tan, Department of Neurology, National Neuroscience ...

Correspondence to Dr Volker M Lauschke, Department of Physiology and Pharmacology, Section of Pharmacogenetics, Karolinska Institutet, Stockholm, SE-171, Sweden; volker.lauschke{at}ki.se Background ...

Correspondence to M Alriyami, Department of Experimental Medicine, Research Institute of McGill University Health Centre, 1001 boul Decarie, Site Glen Pavilion E/ Block E, Mail Drop Point #EM0.3211 ...

1 Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK 2 Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, UK 3 Department of ...

Background: Fabry disease is an X linked lysosomal storage disease caused by deficiency of the lysosomal enzyme α-galactosidase A. This leads to accumulation of globotriaosylceramide in nearly all ...

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1 Program in Developmental Biology, the Hospital for Sick Children, Toronto, Canada 2 Western Sydney Genetics Program, the Royal Alexandra Hospital for Children, Sydney, and Discipline of Paediatrics ...

Department of Paediatric Genetics, Edouard Herriot Hospital, 5 Place d’Arsonval, F69437 Lyon, Cedex 03, France Correspondence to: Dr Guffon, Department of Paediatric Genetics, Edouard Herriot Hospital ...

Background The genomic contribution to adverse health sequelae in babies born very preterm (<32 weeks’ gestation) is unknown. We conducted an investigation of rare CNVs in infants born very preterm as ...

Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome/MRC Building, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2XY, UK Huntington’s disease (HD) is thought to show ...

Purpose To explore the molecular basis of familial, early onset, age-related macular degeneration (AMD) with diverse phenotypes, using whole exome sequencing (WES). Methods We performed WES on four ...