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        457-468 of 538 results for 'Gene'

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        Parental perspectives on the communication abilities of their daughters with Rett syndrome

        How females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication ...

        Research

        Expanding the clinical picture of the MECP2 Duplication syndrome

        Perinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome ...

        Research

        Novel peptide-based drugs for the treatment of sonic hedgehog-dependent medulloblastoma

        Medulloblastoma, the most common pediatric malignant brain tumor, consists of at least four distinct molecular subgroups. ...

        Research

        Penicillin G concentrations required for prophylaxis against Group A Streptococcus infection evaluated using a hollow fibre model and mathematical modelling

        Acute rheumatic fever (ARF), an autoimmune reaction to Group A Streptococcus (Streptococcus pyogenes; Strep A) infection, can cause rheumatic heart disease (RHD). New formulations of long-acting penicillins are being developed for secondary prophylaxis of ARF and RHD. ...

        Research

        Atypical nested 22q11.2 duplications are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance

        Our findings contribute to the genotype–phenotype data for atypical nested 22q11.2 duplications, with implications for genetic counseling ...

        Research

        Germ-line and somatic DICER1 mutations in pineoblastoma

        This study suggests that germ-line DICER1 mutations make a clinically significant contribution to PinB, establishing DICER1 as an important susceptibility... ...

        Research

        Western Australian children with acute lymphoblastic leukemia are taller at diagnosis than unaffected children of the same age and sex

        Acute lymphoblastic leukemia (ALL) is the commonest childhood malignancy in Australian children ...

        Research

        Children’s regenerative and genetic medicine program

        André Anthony Stephen Schultz Kicic Stick AS A SM MBChB, PhD, FRACP BSc (Hons) PhD MB BChir PhD MRCP FRACP Program Head, Respiratory Health RFA Rothwell Family Fellow; Head, Airway Epithelial Research Head, P4 Respiratory Health for Kids ...

        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. ...

        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

        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

        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 ...

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