Correspondence to Ma'n H Zawati, Faculty of Medicine, Department of Human Genetics, Centre of Genomics and Policy, McGill University, 740 Dr Penfield Avenue, Room 5103, Montreal, Quebec, Canada QC H3A ...

1 Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia 2 Department of Pediatrics, King Khalid University Hospital, College of Medicine, King Saud ...

Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth ...

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 ...

2 Centre for Imaging Sciences, Institute of Population Health, University of Manchester, Manchester, UK Correspondence to Dr Stavros M Stivaros, Academic Department of Paediatric Radiology, Children's ...

The inactivation of programmed cell death has profound effects not only on the development but also on the overall integrity of multicellular organisms. Beside developmental abnormalities, it may lead ...

Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK Correspondence to: Dr Anne Lampe Institute of Human Genetics, University of Newcastle upon Tyne, International ...

Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA Correspondence to: Dr V P Sybert, Box 356524, Division of Dermatology, University of Washington School of Medicine ...

Background Azoospermia is diagnosed when sperm cells are completely absent in the ejaculate even after centrifugation. It is identified in approximately 1% of all men and in 10%–20% of infertile males ...