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        Associate investigators

        Dr Carmel Smart Dr Carmel Smart (APD, PhD) is a Specialist Diabetes Dietitian at the John Hunter Children's Hospital, Newcastle and is completing ...

        News & Events

        New Rheumatic Heart Disease Centre

        The Telethon Kids Institute is proud to announce the launch of a world class Centre of Research Excellence in rheumatic heart disease (RHD). ...

        News & Events

        $2 million boost to child development research

        Researchers at Perth's Telethon Institute for Child Health Research have been awarded a prestigious Australian Research Council linkage grant ...

        Research

        In silico evolution of nucleic acid-binding proteins from a nonfunctional scaffold

        Directed evolution emulates the process of natural selection to produce proteins with improved or altered functions. These approaches have proven to be very powerful but are technically challenging and particularly time and resource intensive. To bypass these limitations, we constructed a system to perform the entire process of directed evolution in silico. ...

        Research

        Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

        We aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency. ...

        Research

        Frequency of protracted bacterial bronchitis and management pre-respiratory referral

        To determine the frequency of protracted bacterial bronchitis (PBB) in children referred to tertiary care with chronic cough and describe management prior to referral. A retrospective cohort study of all new patients with a history of ≥4 weeks of cough seen at the only tertiary paediatric outpatient respiratory service in Western Australia. ...

        Research

        Ultra high-risk PFA ependymoma is characterized by loss of chromosome 6q

        Within PF-EPN-A, 1q gain is a marker of poor prognosis, however, it is unclear if within PF-EPN-A additional cytogenetic events exist which can refine risk stratification. ...

        Research

        Accuracy of Central Neuro-Imaging Review of DIPG Compared with Histopathology in the International DIPG Registry

        Diffuse intrinsic pontine glioma (DIPG) remains a clinico-radiologic diagnosis without routine tissue acquisition. Reliable imaging distinction between DIPG and other pontine tumors with potentially more favorable prognoses and treatment considerations is essential. ...

        Research

        Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life

        Research is needed to determine best practice for genomic testing in the context of child interstitial or diffuse lung disease. We explored parent's and child's health-related quality of life, parents' perceived understanding of a genomic testing study, satisfaction with information and the study and decisional regret to undertake genomic testing. ...

        Research

        Characteristics of patients ≥10 years of age with diffuse intrinsic pontine glioma: a report from the International DIPG/DMG Registry

        Diffuse intrinsic pontine gliomas generally occur in young school-age children, although can occur in adolescents and young adults. The purpose of this study was to describe clinical, radiological, pathologic, and molecular characteristics in patients ≥10 years of age with DIPG enrolled in the International DIPG Registry. ...

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