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This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations
Neuritin 1, an activity-regulated gene with multiple roles in neurodevelopment & synaptic plasticity, is linked to a subtype of schizophrenia.
Levels of circulating glucose are tightly regulated. To identify new loci influencing glycemic traits, we performed meta-analyses of 21 genome-wide...
Pulmonary function measures are heritable traits that predict morbidity and mortality and define chronic obstructive pulmonary disease (COPD).
The relation between intrauterine growth and risk of childhood acute lymphoblastic leukemia was investigated in an Australian population-based case-control...
To examine whether maternal gestational hypertension and preeclampsia are associated with behavioral problems in offspring
This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate...
The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether...
The goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,...
Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history.