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A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative DiseaseWe have revealed a novel SH2D1A gene mutation in a patient with XLP resulting in fulminant refractory EBV-driven HLH, which is a recognized severe complication
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Inflammatory bowel diseases: interrelationships between dietary vitamin D, exposure to UV radiation and the fecal microbiomeThis review explores the interaction of vitamin D, and ultraviolet radiation, with the intestinal innate and adaptive immune systems
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Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International PerspectiveThe Growth Hormone Research Society (GRS) convened a Workshop in March 2019 to evaluate the diagnosis and therapy of short stature in children
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Use of remote monitoring with continuous glucose monitoring in young children with Type 1 diabetes: the parents’ perspectiveParents of primary school children reported that using remote monitoring and continuous glucose monitoring was a mostly beneficial experience
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Allograft outcome following repeat transplantation of patients with non-adherence-related first kidney allograft failure: a population cohort studyThe associations between causes of first allograft failure and acute rejection-related and non-adherence-related allograft failure following re-transplantation
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QuantSeq. 3′ Sequencing combined with Salmon provides a fast, reliable approach for high throughput RNA expression analysisQuantSeq, coupled with a fast quantification method such as Salmon, should provide a viable alternative to traditional RNA-Seq in many applications
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Genome mining and characterisation of a novel transaminase with remote stereoselectivityHere we report a novel ω-transaminase discovered in a marine sponge Pseudovibrio sp. isolate
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Investigating associations between birth order and autism diagnostic phenotypesBirth order effects have been linked to variability in intelligence, educational attainment and sexual orientation. First- and later-born children have been linked to an increased likelihood of an Autism Spectrum Disorder (ASD) diagnosis, with a smaller body of evidence implicating decreases in cognitive functioning with increased birth order. The present study investigated the potential association between birth order and ASD diagnostic phenotypes in a large and representative population sample.
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Complicated skin and soft tissue infections in remote indigenous communitiesThe burden and consequences of skin infections for remote living indigenous people are high
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Challenges posed by COVID-19 to children with cancerDevelopment of standardised guidance by national and regional authorities for reducing the risk of SARS-CoV-2 transmission to children with cancer