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Murine cytomegalovirus infection exacerbates complex IV deficiency in a model of mitochondrial diseaseWe report for the first time that a common stress condition, such as viral infection, can exacerbate mitochondrial dysfunction in a genetic model of mitochondrial disease
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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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Predicting Long-Term Survival Without Major Disability for Infants Born PretermApgar score, birth weight, sex, socioeconomic status, and maternal ethnicity, in addition to gestational age, have pronounced impacts on disability-free survival.
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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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Standardization of Spirometry 2019 Update. An Official American Thoracic Society and European Respiratory Society Technical StatementStandards and consensus recommendations are presented for manufacturers, clinicians, operators, and researchers
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The impact of pre-pregnancy body mass index and gestational weight gain on placental abruption risk: a systematic review and meta-analysisMothers that are underweight prior to or in early pregnancy are at a moderately increased risk of placental abruption
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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