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

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 ...

Little is understood of the genotype/phenotype correlations in X linked glycerol kinase deficiency (GKD) where most cases are caused by extensive deletions of Xp21, which often include genes flanking ...

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, ...

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 ...

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 ...

Background Ovarian clear cell carcinoma (OCCC) arises from endometriosis and represents a difficult-to-treat gynaecological malignancy, in part, because its spatial intratumour heterogeneity and ...

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 ...