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Clinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience
This effect of gestational age on rehospitalisation for infants born preterm is highest in the first year post-discharge, but almost disappeared by adolescence
Mothers of autistic children and adults bewtween 11 and 24 years old were interviewed about the impacts and rewards associated with their children's disability.
The aim of this study was to examine the prevalence of medical conditions and use of health services among young adults with Down syndrome and describe the...
This study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia.
The objective of this study was to evaluate areas of clinical uncertainty among pediatric spine surgeons regarding the treatment of early-onset scoliosis.
This study aimed to explore the factors that predict functioning in families with a child with Down syndrome using a mixed methods design.
Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males.
Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,...
Use of patient-reported outcome measures in clinical settings facilitate the delivery of better health care to improve patient health outcomes.