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To describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data.
This evidence-based consensus guideline presents recommendations and discusses the graded evidence (using the GRADE system) for these recommendations.
This study assessed an alternative approach, using a small scale halide assay that can be adapted for a personalized high throughput setting to analyze CFTR function of pAEC.
We investigate the relationship between hearing loss and cardiovascular disease risk factors.
This study investigated the extent to which prenatal and perinatal risk factors were associated with LLE in a population-level sample of twins at age 2 without overt disability.
The completeness of the coverage of a genome assembly is a critical starting point for all genomic projects so considerable attention is given to the sequencing metrics, which showed high indicators of success.
NDD's such as ASD, ADHD and ID, commonly emerge during early development and impacts function across cognitive, social-emotional, communication and sensorimotor
We aim to provide our view of where we are and where we need to go as a community of clinicians and researchers who tackle the public health problem of asthma.
The DNA lesion 8-oxo-7,8-dihydro-2'-deoxyguanosine (8-oxodG), a urinary marker of oxidative stress, is produced from reactions of reactive oxygen
Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...