Novel germline TP53 variant (p.(Phe109Ile)) confer high risk of cancer ...

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, ...

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 ...

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 ...

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 ...

1 Cardiovascular Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA 2 Section on Human Genetics, Laboratory of Molecular Genetics, National ...

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

*Department of Paediatrics, Faculty of Medicine, National University of Singapore, Lower Kent Ridge Road, Singapore 119074, Republic of Singapore †National University Medical Institutes, Faculty of ...

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 ...