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        Research

        Content validation of the Quality of Life Inventory—Disability

        Satisfactory content validity is reported, where ongoing consumer feedback shaped the dataset from which the final items were selected ...

        Research

        A Population-Based Matched-Sibling Analysis Estimating the Associations Between First Interpregnancy Interval and Birth Outcomes

        Interpregnancy intervals of <6 months were associated with increased odds of preterm birth in second-born infants ...

        Research

        Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials

        CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder with symptoms of epilepsy, developmental impairments, and other comorbidities. Currently, there are no outcome measures for CDD with comprehensive evidence of validation. This study aimed to evaluate the psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) in CDD. Quality of Life Inventory-Disability was administered to 152 parent caregivers registered with the International CDKL5 Disorder Database (ICDD). ...

        Research

        CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

        Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays. ...

        Research

        Influenza vaccine effectiveness and uptake in children at risk of severe disease

        Participation in the preschool influenza vaccination program remains low with parents unconvinced of the benefits and safety of influenza vaccine ...

        Research

        Monitoring child abuse and neglect at a population level: patterns of hospital admissions for maltreatment and assault

        To investigate the prevalence, trends, and characteristics of maltreatment and assault related hospital admissions and deaths among children; ...

        Research

        Understanding leishmaniasis through HLA

        Jenefer Blackwell JM BSc with First Class Honours, PhD, DSc, FMedSci, FAA Head, Genetics & Health Jenefer.Blackwell@telethonkids.org.au Head, ...

        News & Events

        Top scientist recruited to WA for HOT NORTH Fellowship

        Telethon Kids has recruited Dr Timothy Barnett to embark on a Fellowship to help close gaps in health outcomes between Indigenous and non-indigenous kids ...

        Research

        Amped Out: An Energy Drink Study

        Gina Matt Francis Trapp Cooper Mitrou GT MC FG BHSc(Hons1A), RPHNutr, PhD BCA Marketing, BSc Statistics and Applied Statistics, PhD BEc ARC DECRA ...

        Research

        OPTIMUM: OPTimising IMmunisation Using Mixed schedules

        Pat Peter Susan Tom Jennifer Holt Richmond Prescott Snelling Kent PG PC SL T J PhD, DSc, FRCPath, FRCPI, FAA MBBS MRCP(UK) FRACP MBBS BMedSci PhD ...

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