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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resourcesThe Human Phenotype Ontology is a standardized vocabulary of phenotypic abnormalities used by researchers, clinicians, informaticians and electronic health record systems
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“We are in this together”: Experiences of relationship satisfaction in couples raising a child with autism spectrum disorderCouples can be supported in these key areas to strengthen their relationship to serve as a source of resilience for families with a child with ASD
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Impact of heart disease on maternal, fetal and neonatal outcomes in a low-resource settingOccult maternal heart disease may be responsible for a substantial proportion of adverse pregnancy outcomes in low-resource settings
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Research Note: Adaptive trialsThis Research Note has explored the strengths, risks and potential complexity of adaptive trials
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Quantification of Serum Ovalbumin-specific Immunoglobulin E Titre via in vivo Passive Cutaneous Anaphylaxis AssayWe describe herein a highly reproducible in vivo passive cutaneous anaphylaxis assay using Sprague Dawley rats for the quantification of ovalbumin-specific IgE
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Developmental vitamin D deficiency produces behavioral phenotypes of relevance to Autism in an animal modelHere we investigate these features in an animal model related to autism spectrum disorder - the DVD-deficient rat
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Planetary Health: From the Wellspring of Holistic Medicine to Personal and Public Health ImperativeHere, we explore the history of planetary health and describe its relevance to contemporary healthcare
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Facilitators and Barriers of Participation in “Uptime” Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and ProfessionalsThis study explored facilitators and barriers to "uptime" (non-sedentary) activities in Danish girls and women with Rett syndrome
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Comparing adolescent and parent reports of externalizing problems: A longitudinal population-based studySubstance use, depression and low school motivation impacted on discrepancy in externalizing behaviour scores for 14-year-old male adolescents and their parents
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A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next FrontiersThere is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care