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The natural history of the MECP2 Duplication disorder: Australian surveillance and plans for development of an international register

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763

Research Australia: The Root of the Problem

Tackling tooth health in regional WA

Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder

Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being

Cannabis for refractory epilepsy in children: A review focusing on CDKL5 Deficiency Disorder

This review provides the first comprehensive overview of the potential role for cannabis based preparations in the treatment of CDKL5 Deficiency Disorder

Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome

There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome.

Preterm Paediatric Inhaled Corticosteroids Intervention (PICSI)

Understanding if ongoing inflammation in the lungs contributes to the poor lung health experienced by some children who were born preterm.

Exploiting the reactive oxygen species imbalance in high-risk paediatric acute lymphoblastic leukaemia through auranofin

The prognosis for high-risk childhood acute leukaemias remains dismal and established treatment protocols often cause long-term side effects in survivors. This study aims to identify more effective and safer therapeutics for these patients.

Genome-wide association meta-analysis of single-nucleotide polymorphisms and symptomatic venous thromboembolism during therapy for ALL and lymphoma in caucasian children

The largest GWAS meta-analysis conducted to date associating SNPs to venous thromboembolism in children and adolescents treated on childhood ALL protocols

Association between male genital anomalies and adult male reproductive disorders: a population-based data linkage study spanning more than 40 years

Undescended testes is associated with an increased risk of testicular cancer and male infertility, and decreased paternity

Association between male genital anomalies and adult male reproductive disorders: a population-based data linkage study spanning more than 40 years

We provide new evidence to support current guidelines for orchidopexy before age 18 months to decrease the risk of future testicular cancer and infertility