Edward Meryon was an English physician of Huguenot stock. He studied medicine at University College, London, and his chief appointments were at St Thomas's Hospital and the London Infirmary for ...

This study was undertaken to establish the prevalence rates at birth of the skeletal dysplasias that can be recognised in the perinatal period. Using the data base of the Latin-American Collaborative ...

Motor kinesins are a family of evolutionary conserved proteins involved in intracellular trafficking of various cargoes, first described in the context of axonal transport. They were discovered to ...

1 Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA 2 Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, ...

3 Department of Paediatric Dentistry, Eastman Dental Institute for Oral Health Care Sciences, University College London, 256 Gray’s Inn Road, London WC1X 8LD, UK 4 Institute of Child Health, ...

Purpose and scope The aim of this position statement is to provide recommendations for Canadian healthcare professionals regarding the use of genome-wide sequencing (GWS) in the context of diagnostic ...

Departments of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center, Chicago, Illinois, USA Objective: A pilot open label, single dose trial of fenobam, an mGluR5 antagonist ...

We report the dysmorphological, genetic, and speech therapy aspects of 38 cases of velocardiofacial syndrome presenting to a craniofacial clinic and a specialised children's hospital, to indicate a ...

Development and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex ...

Correspondence to: Prof. J Poulton Nuffield Department of Obstetrics and Gynaecology, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK; joanna.poultonobstetrics-gynaecology.oxford.ac.uk ...

1 Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Limburg, Netherlands 2 Department of Obstetrics & Gynaecology Maastricht University Medical Centre, Maastricht ...