If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be ...
Whole-genome sequencing (WGS) for every UK newborn is hailed as a leap towards lifelong personalised medicine, yet policymakers have scarcely examined the informatics iceberg beneath the initiative: ...
Division of Paediatric Surgery, Department of Surgery, Li Ka Shing Faculty of Medicine of the University of Hong Kong, Hong Kong SAR, China If you wish to reuse any ...
56 CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST); Universitat Pompeu Fabra (UPF), Barcelona, Spain 57 Unité de Neurophysiologie Clinique, Centre ...
Correspondence to Dr Ian P Blair, Biomedical Sciences, Macquarie University Faculty of Medicine and Health Sciences, Sydney, NSW 2109, Australia; ian.blair{at}mq.edu.au Background Amyotrophic lateral ...
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be ...
ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature ...
A structural aberration (SA) with secondary implications (SASIs) involving a cancer susceptibility gene is identified on chromosome microarray in approximately 0.6% tests performed on index cases.
1 Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China Background Nanophthalmos is a rare ocular condition characterised by a significantly short axial ...
1 Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, California, USA 2 Department of Psychiatry and Department of Preventive Medicine, Keck School ...
Background Improving the precision and accuracy of variant classification in clinical genetic testing requires further specification and stratification of the American College of Medical ...
BACKGROUND We have sought to establish the prevalence of goitre within a Pendred syndrome (PS) cohort and to document the course of thyroid disease in this patient group. As part of a genetic study of ...
Results that may be inaccessible to you are currently showing.
Hide inaccessible results
Feedback