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Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?These cases, both without seizures but with apparent behavioral symptomatology, together question whether seizures are mandatory in this disorder
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Draft Genome Sequences of Three Pseudomonas fluorescens Strains Isolated from Marine Sponges Harvested off the West Coast of IrelandThree Pseudomonas sp. strains isolated from marine sponges have shown potential quorum sensing inhibition activity
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Could home-based FeNO measurements breathe new life into asthma management?Developing a FeNO test that is affordable enough to allow daily measurements, patients will be able to access quantifiable data to assist them to monitor their asthma
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Identification of novel cerebellar developmental transcriptional regulators with motif activity analysisThe FANTOM5 cerebellum time series is a high-quality transcriptome database for functional investigation of gene regulatory networks in cerebellar development
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Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980–2010We report on the prevalence and trends of hypospadias which indicate that the prevalence of hypospadias continues to increase internationally
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Systematic Review of the Effects of Ultraviolet Radiation on Markers of Metabolic DysfunctionHere we review the metabolic effects of exposure to ultraviolet radiation, focusing on the effects of phototherapies
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Early patterns of functional brain development associated with autism spectrum disorder in tuberous sclerosis complexInfants with Tuberous sclerosis complex demonstrated reduced interhemispheric alpha phase coherence compared to controls at 12 months of age
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Role of HLA-DQ typing and anti-tissue transglutaminase antibody titers in diagnosing celiac disease without duodenal biopsy in type 1 diabetesHLA-DQ typing is not cost effective as a first-line screening test for CD in T1D patients because of over-representation of CD permissive HLA alleles in this group
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Lipid profile is associated with treatment regimen in a large cohort of children and adolescents with Type 1 diabetes mellitusOur results indicate that pump therapy is associated with a better lipid profile
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Exposure to bile leads to the emergence of adaptive signaling variants in the opportunistic pathogen pseudomonas aeruginosaAdaptive variants of P. aeruginosa that arise following long term bile exposure enables the emergence of ecologically competitive sub-populations