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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.
To determine the duration and severity of acute postoperative pain experienced by children undergoing 8 different general and urological procedures.
Globally, life expectancy from birth increased from 61·7 years in 1980 to 71·8 years in 2015
The purpose of this article is to investigate whether the number and timing of stressors experienced during pregnancy impacted longterm motor development at...
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 Antimicrobial-resistant microbes are an increasing
We investigated the types and determinants of noncompliance associated with a protocol for use of polysulphone UVR dosimeters.
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.
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 activities in paediatric chronic disease cover many discipline areas and have elicited a broad range of topics