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Prevalence, clinical investigation, and management of gallbladder disease in Rett syndromeThis study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...
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Hospital utilization, costs and mortality rates during the first 5 years of lifeLong-term physical and mental health outcomes of ART singletons are generally reassuring. There is a scarcity of information on health service utilization...
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Both Dietary Protein and Fat Increase Postprandial Glucose Excursions in Children With Type 1 DiabetesOur objective was to determine the separate and combined effects of high-protein (HP) and high-fat (HF) meals, with the same carbohydrate content, on...
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Exercise to prevent late-onset hypoglycemia in individuals with type1 diabetesA 10-s sprint performed after 30 min of moderate-intensity exercise does not affect the amount of carbohydrate required to maintain euglycemia postexercise...
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Prepubertal Gynecomastia in Boys with Peutz-Jeghers SyndromePeutz-Jeghers syndrome (PJS) is an autosomal-dominant disorder that arises as a consequence of mutations in the STK11 gene that encodes LKB1.
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Safety and immunogenicity of a vero cell culture-derived whole-virus influenza a(H5N1) vaccine in a pediatric populationThis study examined the safety and immunogenicity of a vero cell culture-derived whole-virus influenza a(H5N1) vaccine in a pediatric population.
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Grey matter changes associated with deficit awareness in mild cognitive impairment: A voxel-based morphometry studyWe examined the association of insight and grey matter volume using a voxel-based morphometry approach in volunteers with and without mild cognitive impairment.
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Finding Cooccurring Terms across Gene Ontology NamespacesThe Gene Ontology (GO) provides a resource for consistent annotation of genes and gene products that is extensively used by numerous large public repositories.
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Raine Eye Health Study: Ophthalmic Disease in a Birth-cohort Study of Young AdultsThe Raine Eye Health Study (REHS) was conceived to determine the prevalence of and risk factors for eye disease in young adults, and to characterize...
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Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international datasetCharacterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants.