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Genotype and phenotype spectrum of NRAS germline variants

Here we describe 19 new cases with RASopathy due to disease-causing variants in NRAS

Physician training programs significantly improve diagnosis in cases coded as anaphylaxis over time: A major factor compounding time-trend data?

We conducted an investigation of all cases coded as anaphylaxis presenting to the main tertiary PED in Perth, Australia, where all coding is performed by staff.

A Phase I Study of the CDK4/6 Inhibitor Ribociclib (LEE011) in Pediatric Patients with Malignant Rhabdoid Tumors, Neuroblastoma, and Other Solid Tumors

In this. i study the MTD and RP2D, safety, PK, and preliminary activity of single-agent ribociclib were investigated in patients with neuroblastoma.

Incidence of and risk factors for hospitalisations due to vascular complications: A population-based type 1 diabetes cohort (n=1316) followed into early adulthood

Determining the incidence of hospitalisations and risk factors for vascular complications experienced during early adulthood in patients with childhood T1D

The collective impact of rare diseases in Western Australia: An estimate using a population-based cohort

This cohort study provides new evidence of a disparity between the proportion of the population with rare diseases and their combined health-system costs

Early childhood development of boys with genital anomalies

We found no increased risk of poor development among boys with hypospadias or undescended testis

Early introduction of food reduces food allergy – Pro and Con

When an infant is developmentally ready, a variety of nutritious foods should be introduced including the ‘more allergenic’ foods during infancy

Somatosensory discrimination intervention improves body position sense and motor performance in children with hemiplegic cerebral palsy

The intervention group improved in goal performance, proprioception, and bimanual hand use and maintained improvement at 6-mo follow-up.