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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
In the first multinational study of birth seasonality of autism spectrum disorder, there was evidence supporting the presence of seasonal trends in Finland and Sweden
A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials.
Based on population data from 5 countries, the heritability of ASD was estimated to be approximately 80%
Principal Research Fellow
PhD Candidate
This study assessed the contribution of physical factors including lumbar posture to scoliosis in non-ambulatory youth with DMD in Nepal.
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...
Major increases in the survival of people with Down syndrome during the last two generations have resulted in extended periods of adulthood requiring...
Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...