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        49-60 of 102 results for 'rare disease day'

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        Reference exome data for Australian Aboriginal populations to support health-based research

        Our data set provides a useful reference point for genomic studies on Aboriginal Australians ...

        Research

        Common and Rare Genetic Variants That Could Contribute to Severe Otitis Media in an Australian Aboriginal Population

        Our goal was to identify genetic risk factors for severe otitis media (OM) in Aboriginal Australians. ...

        Research

        Coffee and tea consumption during pregnancy and risk of childhood acute myeloid leukemia: A Childhood Leukemia International Consortium (CLIC) study

        We investigated the potential association of maternal coffee and tea consumption during pregnancy with childhood acute myeloid leukemia risk ...

        Research

        The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

        The Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia ...

        Research

        Temporally restricted activation of IFNβ signaling determines response to immune checkpoint therapy

        The biological determinants of the response to immune checkpoint blockade (ICB) in cancer remain incompletely understood. Little is known about dynamic biological events that underpin therapeutic efficacy due to the inability to frequently sample tumours in patients. ...

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        An unbiased exploration of the human regulatory landscape

        Timo Lassmann T BSc (Hons) MSc PhD Feilman Fellow; Program Head, Precision Health and Team Lead, Computational Biology timo.lassmann@telethonkids.org.au Feilman Fellow; Program Head, Precision Health and Team Lead, Computational Biology Timo ...

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        CAGEd-oPOSSUM: motif enrichment analysis from CAGE-derived TSSs

        CAGEd-oPOSSUM can identify transcription factors that act as key regulators of genes involved in specific mammalian cell and tissue types ...

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        DeepCAGE transcriptomics identify HOXD10 as a transcription factor regulating lymphatic endothelial responses to VEGF-C

        The role of HOXD10 in the regulation of VEGFR-3 signaling in lymphatic endothelial cells, and in the control of lymphangiogenesis and permeability ...

        Research

        Genome-wide analysis of genetic risk factors for rheumatic heart disease in Australian Aboriginal populations from the Northern Territory

        Jenefer Timo Sarra Genevieve Jonathan Blackwell Lassmann Jamieson Syn Carapetis AM JM T SE GS JR BSc with First Class Honours, PhD, DSc, FMedSci, FAA BSc (Hons) MSc PhD BSc (Hons) MSc PhD BSc (Hons), PhD AM MBBS FRACP FAFPHM PhD FAHMS Head, ...

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        Transcriptional blood signatures for active and amphotericin B treated visceral leishmaniasis in India

        Amphotericin B provides improved therapy for visceral leishmaniasis (VL) caused by Leishmania donovani ...

        Research

        Bilateral murine tumor models for characterizing the response to immune checkpoint blockade

        This protocol describes bilateral murine tumor models that display a symmetrical yet dichotomous response to immune checkpoint blockade ...

        Research

        Immune checkpoint therapy responders display early clonal expansion of tumor infiltrating lymphocytes

        Immune checkpoint therapy (ICT) causes durable tumour responses in a subgroup of patients, but it is not well known how T cell receptor beta (TCRβ) repertoire dynamics contribute to the therapeutic response.  ...

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