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 ...

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 ...

Correspondence to Dr A Barco, Instituto de Neurociencias de Alicante (Universidad Miguel Hernández-Consejo Superior de Investigaciones Científicas), Campus de Sant Joan, Apt. 18, Sant Joan d'Alacant ...

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 ...

Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada Results: A novel germline CDH1 truncating mutation in the extracellular portion of ...

4 Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK 5 Research School for Cardiovascular Diseases in ...

1 Family Cancer Clinic, AZ-VUB, Vrije Universiteit Brussel, Laarbeeklaan 101, B-1090 Jette, Belgium 2 Department of Medical Oncology, AZ-VUB, Vrije Universiteit Brussel, Belgium 3 Department of Cancer ...

Background Tuberous sclerosis complex (TSC) is a genetic disease characterised by the growth of benign tumours. The Tuberous sclerosis Associated Neuropsychiatric Disorders (TAND) Checklist is used to ...

Background Until recently, determining penetrance required large observational cohort studies. Data from the Exome Aggregate Consortium (ExAC) allows a Bayesian approach to calculate penetrance, in ...

Correspondence to Professor D Gareth Evans, Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, St Mary’s Hospital, University of Manchester, Manchester M13 9WL, UK; ...

2 Department of Obstetrics and Gynecology Mount Sinai Hospital, Toronto, ON, Canada 3 The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON, Canada 4 Department of ...

2 College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China Background A high level of succinylacetone (SA) in blood is a sensitive, specific newborn screening ...