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        Research

        The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

        The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres. ...

        Research

        Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus

        Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia,... ...

        Research

        Statistical adjustment of genotyping error in a case-control study of childhood leukaemia

        Genotyping has become more cost-effective and less invasive with the use of buccal cell... ...

        Research

        Murine bone-derived mesenchymal stem cells undergo molecular changes after a single passage in culture

        The rarity of the mesenchymal stem cell (MSC) population poses a significant challenge for MSC research. Therefore, these cells are often expanded in vitro, prior to use. However, long-term culture has been shown to alter primary MSC properties. ...

        Research

        Systematic assessment of tissue dissociation and storage biases in single-cell and single-nucleus RNA-seq workflows

        Systematic comparison of recovered cell types and their transcriptional profiles across the workflows has highlighted protocol-specific biase ...

        Research

        Circulating epigenomic biomarkers correspond with kidney disease susceptibility in high-risk populations with type 2 diabetes mellitus

        To investigate epigenomic indices of diabetic kidney disease (DKD) susceptibility among high-risk populations with type 2 diabetes mellitus.  ...

        Research

        Antibiotic consumption for sore throat and the potential effect of a vaccine against group A Streptococcus: a systematic review and modelling study

        Antibiotic consumption can lead to antimicrobial resistance and microbiome imbalance. We sought to estimate global antibiotic consumption for sore throat, and the potential reduction in consumption due to effective vaccination against group A Streptococcus. ...

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        New guidelines a model for better management of rare conditions

        New guidelines a model for better management of rare conditions ...

        Research

        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

        A marked shift in innate and adaptive immune response in chinese immigrants living in a western environment

        There is a marked shift in innate and adaptive immune responses in Chinese immigrants after living in a Western environment for several years ...

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