We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome
To investigate specific child and parental factors associated with increased vulnerability to substantiated child maltreatment.
This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.
This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.
This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations
Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous ma…
Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically.
This paper discusses changes in diagnostic criteria, decreasing age at diagnosis, improved case ascertainment, diagnostic substitution, and social in…
Overview of Health Issues in School-aged Children with Down Syndrome
The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and…