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 ...
In 1997, the Journal of Medical Genetics published our paper on the spectrum of clinical features associated with interstitial chromosome 22q11 deletions. This copy number variation is associated with ...
Background Amyotrophic lateral sclerosis overlaps aetiologically and genetically with frontotemporal dementia and occurs in both familial and apparently sporadic forms. The most commonly implicated ...
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; ...
1 Centre for Community Child Health, Royal Children’s Hospital, Parkville, Victoria, Australia 2 Murdoch Children’s Research Institute, Royal Children’s Hospital, Parkville, Victoria, Australia ...
7 International Research Fellow of Japan Society for the Promotion of Science (Postdoctoral Fellowships for Research in Japan (Standard)), Tokyo, Japan Correspondence to Dr Shinji Saitoh, Department ...
Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth ...
1 Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK 2 European Molecular Biology ...
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