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 ...

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 ...

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 ...

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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 ...

We report the dysmorphological, genetic, and speech therapy aspects of 38 cases of velocardiofacial syndrome presenting to a craniofacial clinic and a specialised children's hospital, to indicate a ...