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        Meta-taxonomic analysis of prokaryotic and eukaryotic gut flora in stool samples from visceral leishmaniasis cases and endemic controls in Bihar State India

        We evaluate a meta-taxonomic approach to determine the composition of prokaryotic and eukaryotic gut microflora using sequencing of 16S RNA and 18S rRNA ...

        Research

        Clinical and biological progress over 50 years in Rett syndrome

        Review of the clinical and biological progress over 50 years in Rett Syndrome ...

        Research

        Association between male genital anomalies and adult male reproductive disorders: a population-based data linkage study spanning more than 40 years

        We provide new evidence to support current guidelines for orchidopexy before age 18 months to decrease the risk of future testicular cancer and infertility ...

        Research

        Improved diagnosis, treatment and prevention of recurrent tonsillitis

        Anthony Janessa Ruth Tim Kicic Pickering Thornton Barnett A Dr RT TB BSc (Hons) PhD BSc PhD PhD PhD Rothwell Family Fellow; Head, Airway Epithelial Research Senior Research Fellow (currently HOT NORTH Early Career Fellow) Co-head, Bacterial ...

        Research

        Protection against severe infant lower respiratory tract infections by immune training: Mechanistic studies

        Results from recent clinical studies suggest potential efficacy of immune training (IT)-based approaches for protection against severe lower respiratory tract infections in infants, but underlying mechanisms are unclear. ...

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        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

        Longitudinal effects of caregiving on parental well-being: the example of Rett syndrome, a severe neurological disorder

        Our findings suggest that some opportunities do exist for clinicians to help optimise parental well-being ...

        Research

        Systematic chemical and molecular profiling of MLL-rearranged infant acute lymphoblastic leukemia reveals efficacy of romidepsin

        Present a valuable resource for drug discovery and have identified ROM as a promising therapeutic for MLL-rearranged iALL ...

        Research

        How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?

        This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework ...

        Research

        Quantitative and qualitative insights into the experiences of children with Rett syndrome and their families

        Early presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis ...

        Research

        First genome-wide association study in an Australian Aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes

        A body mass index (BMI) >22kg/m2 is a risk factor for type 2 diabetes (T2D) in Aboriginal Australians. ...

        Research

        FBXO11, a regulator of the TGFΒ pathway, is associated with severe otitis media in Western Australian children

        Otitis media (OM) is a common childhood disease characterised by middle ear inflammation following infection ...

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