1 Section on Epigenetics and Development, National Institute of Child Health and Human Development, Bethesda, Maryland, USA 2 Cardiovascular and Pulmonary Branch, National Heart, Lung and Blood ...

Correspondence to: Dr Virginia Nunes Centre de Genética Mèdica i Molecular (IRO-IDIBELL), Hospital Duran i Reynals, Gran Via Km 2.7, s/n, L’Hospitalet de Llobregat, Barcelona E-08907, Spain; vnunesiro ...

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3 Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands 4 Department of Clinical Genetics, VU University Medical Center, Amsterdam, The ...

6 Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada Correspondence to Dr Kym Boycott, Department of Genetics, Children's Hospital of Eastern Ontario Research ...

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 ...

A syndrome characterized by camptodactyly, distinct facial features, multiple musculoskeletal defects, and unique dermatoglyphic changes is described in two sisters born of consanguineous parents. In ...

The main features of Silver-Russell syndrome (SRS) are pre- and postnatal growth restriction and a characteristic small, triangular face. SRS is also accompanied by other dysmorphic features including ...

Background Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a ...

Objective: The prevalence and types of various cardiovascular diseases in different age groups as well as the outcomes of cardiac surgery and other interventions were assessed in a population of 75 ...

Background Deletions removing 100s–1000s kb of DNA, and variable numbers of poorly characterised genes, are often found in patients with a wide range of developmental abnormalities. In such cases, ...

Canadian consensus for the assessment and testing of Lynch syndrome ...