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Parent-reported health-related quality of life of children with Down syndrome: A descriptive study

To describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data.

Consensus guidelines on the use of bisphosphonate therapy in children and adolescents

This evidence-based consensus guideline presents recommendations and discusses the graded evidence (using the GRADE system) for these recommendations.

Assessment of p.Phe508del-CFTR functional restoration in pediatric primary cystic fibrosis airway epithelial cells

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.

Prenatal and perinatal risks for late language emergence in a population-level sample of twins at age 2

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.

Blueprint for the House Dust Mite

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.

The Promise of Electroencephalography for Advancing Diagnosis and Treatment in Neurodevelopmental Disorders

NDD's such as ASD, ADHD and ID, commonly emerge during early development and impacts function across cognitive, social-emotional, communication and sensorimotor

Interpretation of urinary 8-oxo-7,8-dihydro-2'-deoxyguanosine is adversely affected by methodological inaccuracies when using a commercial ELISA

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 experiences and growth status in a Rett syndrome population

Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...