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Reports and Findings

Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32

The restricted genetic diversity and homogeneous molecular basis of Mendelian disorders in isolated founder populations have rarely been explored in epilepsy...

Receptor mutation is not a common mechanism of naturally occurring glucocorticoid resistance in leukaemia cell lines

Glucocorticoids (GCs) are among the most important drugs for the treatment of acute lymphoblastic leukaemia (ALL).

InterRett, a model for international data collection in a rare genetic disorder

This study compared socio-demographic, clinical and genetic characteristics of the international database, InterRett, and the population-based Australian...

Expression of kinin receptors on eosinophils: comparison of asthmatic patients and healthy subjects

The aims of this study were to investigate kinin receptor expression on eosinophils of asthmatic and healthy subjects

Differentiating between childhood communication disorders: Implications for language and psychosocial outcomes

Differentiating between childhood communication disorders: Implications for language and psychosocial outcomes

Cerebral dominance for language function in adults with specific language impairment or autism

A link between developmental language disorders and atypical cerebral lateralization has been postulated since the 1920s, but evidence has been indirect and...

Rare childhood diseases: how should we respond?

Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,...

Safety and Immunogencity of a Prototype Adjuvanted Inactivated Split-Virus Influenza A (H5N1) Vaccine in Infants and Children

Highly pathogenic avian influenza A virus (H5N1) is a leading candidate for the next influenza pandemic, and infants and children may play an important role...