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        205-216 of 439 results for 'Rare disease'

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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

        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 ...

        Research

        Improving lung health of Aboriginal children hospitalised with chest infections – Aboriginal Children’s Excellent (ACE) Lung Health Study

        Pamela André Matt Laird Schultz Cooper PL AS MC Pictured (left to right) are the team working on the ACE project in the Pilbara region Darcy Roe - senior physiotherapist at Hedland Health Campus Anggun Effendy - senior physiotherapist at Hedland ...

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        Efficacy of oral amoxicillin-clavulanate or azithromycin for non-severe respiratory exacerbations in children with bronchiectasis (BEST-1)

        Amoxicillin-clavulanate treatment is beneficial in terms of resolution of non-severe exacerbations of bronchiectasis in children ...

        Research

        Kids Easy Breathing Study

        André Timo Anthony Kathryn Peter Sam Alex Bep Thomas Schultz Lassmann Kicic Ramsey Richmond Buckberry Brown Uink Iosifidis AS T A KR PC SB AB BU TI MBChB, PhD, FRACP BSc (Hons) MSc PhD BSc (Hons) PhD BSc (Hons), PhD MBBS MRCP(UK) FRACP BSc, BHlthSc ...

        Research

        International Rett syndrome study: InterRett

        Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08 6319 1763 helen.leonard@telethonkids.org.au Jenny.Downs@telethonkids.org.au Principal Research ...

        Research

        Assessment of different techniques for the administration of inhaled salbutamol in children breathing spontaneously via tracheal tubes, supraglottic airway devices, and tracheostomies

        Perioperative respiratory adverse events account for a third of all perioperative cardiac arrests, with bronchospasm and laryngospasm being most common. Standard treatment for bronchospasm is administration of inhaled salbutamol, via pressurized metered dose inhaler. There is little evidence on the best method of attaching the pressurized metered dose inhaler to the artificial airway during general anesthesia. The aim of this study is to investigate the best method to deliver aerosolized salbutamol via pressurized metered dose inhaler to the lungs of an anesthetized child. ...

        Research

        Diversity of Nontypeable Haemophilus influenzae strains colonizing Australian Aboriginal and non-Aboriginal children

        Nontypeable Haemophilus influenzae (NTHI) strains are responsible for respiratory-related infections which cause a significant burden of disease in... ...

        Research

        Malignant Melanoma in Children and Adolescents Treated in Pediatric Oncology Centers: An Australian and New Zealand Children’s Oncology Group (ANZCHOG) Study

        Unlike adults, malignant melanoma in children and adolescents is rare. In adult melanoma, significant progress in understanding tumor biology and new treatments, including targeted therapies and immunotherapy have markedly improved overall survival. In sharp contrast, there is a paucity of data on the biology and clinical behavior of pediatric melanoma. We report a national case series of all pediatric and adolescent malignant melanoma presenting to ANZCHOG Childhood Cancer Centers in Australia and New Zealand. ...

        Research

        Genetic and functional evidence for a role for SLC11A1 in susceptibility to otitis media in early childhood in a Western Australian population

        Otitis media (OM) is a common disease in early childhood characterised by inflammation of the middle ear. ...

        Research

        HLA-DR Class II expression on myeloid and lymphoid cells in relation to HLA-DRB1 as a genetic risk factor for visceral leishmaniasis

        To understand how HLA-DR contributes to disease pathogenesis, we examined expression at the protein level in circulating myeloid and lymphoid cells of VL patients ...

        Research

        SAMStat 2: quality control for next generation sequencing data

        SAMStat is an efficient program to extract quality control metrics from fastq and SAM/BAM files. A distinguishing feature is that it displays sequence composition, base quality composition and mapping error profiles split by mapping quality. This allows users to rapidly identify reasons for poor mapping including the presence of untrimmed adapters or poor sequencing quality at individual read positions. ...

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