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Showing results for "clinical trials"
Head, Kids Rehab WA
We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators.
In clinical genetics, establishing an accurate nosology requires analysis of variations in both aetiology and the resulting phenotypes. At the phenotypic level, recognising typical facial gestalts has long supported clinical and molecular diagnosis; however, the objective analysis of facial phenotypic variation remains underdeveloped.
Honorary Health Professional/Research Associate
Publications from 2016 dating back to 1993 of AussieRett researchers, showing the research work into Rett syndrome and related disorders.
This review examines the current evidence for a possible connection between nutritional intake (including micronutrients and whole diet) and neurocognitive...
To determine the proportion of first status epilepticus cases that are vaccine-proximate and compare clinical outcomes to non-vaccine-proximate cases.
The aim of this study was to describe clinical characteristics, outcomes and causes of microcephaly in children whose condition was identified within the first year of life.
A hub of resources to support cultural safety for Aboriginal and Torres Strait Islander young people, families, and communities.
This study aimed to investigate the associations between glycemic outcomes and a range of clinical and demographic factors, including treatment modality, sex, age, diabetes duration, and body mass index, in youth with type 1 diabetes in an international registry.