• A comparison of the nutrient intake of a community-dwelling first-episode psychosis cohort, aged 19-64 years, with data from the UK population
• Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome
• Clinical outcome of fetuses with sonographic diagnosis of isolated micrognathia
• Diet, diabetes and schizophrenia: review and hypothesis
• Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics
• Further delineation of Kabuki syndrome in 48 well-defined new individuals
• Isolated bicuspid aortic valve in a newborn with Down syndrome
• Isolated bicuspid aortic valve in a newborn with Down syndrome
• Marked female predilection in some syndromes associated with facial hemangiomas
• Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations
• Nutrition and schizophrenia: beyond omega-3 fatty acids
• Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations
• Transient elevation of sweat chloride concentration in a malnourished girl with the Mauriac syndrome
• Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. Case report and review of the literature
• X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male