1 Centre for Child Health Research, University of Western Australia, Telethon Institute for Child Health Research, Perth, Western Australia 2 School of Paediatrics and Child Health, University of ...

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 ...

Correspondence to Professor Jean-Michel Vallat, Department of Neurology, Centre de référence “Neuropathies périphériques rares”, University hospital, 2 Avenue Martin Luther King, Limoges 87042, France ...

Background Complex regional pain syndrome type 1 (CRPS-1) is a rare, disabling and sometimes chronic disorder usually arising after a trauma. This exploratory study examined whether patients with ...

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 ...

The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism ...

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 ...

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 ...

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 ...