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Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants

Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease.

A prospective audit of pain profiles following general and urological surgery in children

To determine the duration and severity of acute postoperative pain experienced by children undergoing 8 different general and urological procedures.

Five-Year Antibody Persistence And Safety Following a Combined Haemophilus Influenzae Neisseria Meningitidis Tetanus Toxoid Vaccines

The purpose of this article is to investigate whether the number and timing of stressors experienced during pregnancy impacted longterm motor development at...

Joint Attention, Symbolic Play, Engagement and Regulation

At CliniKids, the JASPER approach is for preschool and school-aged children who have differences in play and social communication skills.

Use of a Primary Epithelial Cell Screening Tool to Investigate Phage Therapy in Cystic Fibrosis

Use of a Primary Epithelial Cell Screening Tool to Investigate Phage Therapy in Cystic Fibrosis Antimicrobial-resistant microbes are an increasing

Measuring exposure to solar ultraviolet radiation using a dosimetric technique: Understanding participant compliance issues

We investigated the types and determinants of noncompliance associated with a protocol for use of polysulphone UVR dosimeters.

The Kids Research Institute Australia Open Day

Friends and supporters of The Kids Research Institute Australia are invited to join us to celebrate 25 years of making a difference to kids' health at our Open Day.

Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L

Research priority setting in childhood chronic disease: a systematic review

Research priority setting activities in paediatric chronic disease cover many discipline areas and have elicited a broad range of topics