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SCN1A Variants in vaccine-related febrile seizures: A prospective studyPathogenic SCN1A variants may be identified in infants with vaccine-proximate febrile seizures
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A call for global action for rare diseases in AfricaThe outcomes of the deliberations and emphasizes the international collaborative efforts required to address the global effects of rare diseases on public health
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Epidemiology of gastrostomy insertion for children and adolescents with intellectual disabilityGastrostomy is increasingly used in multiple neurological conditions associated with intellectual disability, with no apparent accessibility barriers
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Very Early Identification and Intervention for Infants at Risk of Neurodevelopmental Disorders: A Transdiagnostic ApproachIn this article, we examine the utility of a transdiagnostic, dimensional approach to very early identification and intervention for infants at risk of neurodevelopmental disorders
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Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophyThis study used qualitative methods to explore how adolescents with Duchenne muscular dystrophy used a powered wheelchair standing device in their daily lives
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Atypical nested 22q11.2 duplications are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetranceOur findings contribute to the genotype–phenotype data for atypical nested 22q11.2 duplications, with implications for genetic counseling
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Targeting the bone marrow microenvironment: a novel therapeutic strategy for pre-B acute lymphoblastic leukemiaOur findings shed light on the mechanisms of leukemia-induced bone loss
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Challenges in Accurately Assessing Prenatal Alcohol Exposure in a Study of Fetal Alcohol Spectrum Disorder in a Youth Detention CenterAccurately assessing prenatal alcohol consumption is exceptionally challenging when assessed retrospectively as part of a FASD assessment for a young person sentenced to detention
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Nicotine and other potentially harmful compounds in "nicotine-free" e-cigarette liquids in AustraliaThe aim of our investigation was to assess the chemical composition of a range of e-liquids available in Australia, focusing on nicotine and other potentially harmful compounds
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Research priorities for childhood chronic conditions: a workshop reportResearch priorities emphasise a focus on life participation, psychosocial well-being, impact on family and quality of care