Background: Chromosomal imbalances are a major cause of developmental defects as well as cancer and often constitute the key in identification of novel disease related genes. Classical cytogenetic ...

4 Department of Pulmonology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel 5 Department of Otolaryngology, Head and Neck Surgery, Hadassah-Hebrew University Medical Center, Jerusalem, ...

Department of Medical Genetics, University of Alberta, Edmonton, Alberta T6G 2H7, Canada Correspondence to: Dr D W Cox, 8-39 Medical Sciences Building, University of Alberta Edmonton, Alberta T6G 2H7, ...

Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a ...

Background: Fabry disease is a rare X-linked lysosomal storage disorder characterised by severe multisystemic involvement that leads to major organ failure and premature death in affected men and ...

1 Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands 2 Metabolic Diseases, Wilhelmina Children's Hospital, University of Utrecht, ...

Angelman syndrome ( AS) is a neurodevelopmental disorder characterised by severe learning difficulties, ataxia, a seizure disorder with a characteristic EEG, subtle dysmorphic facial features, and a ...