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Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesEpilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males.
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Lung function testing in preschool-aged children with cystic fibrosis in the clinical settingThis study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.
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Environmental Factors in Children's Asthma and Respiratory EffectsChildhood asthma is a condition characterized by airflow obstruction that varies in time spontaneously, in response to various environmental stimuli...
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Innate inflammatory responses of pediatric cystic fibrosis airway epithelial cells: Effects of nonviral and viral stimulationThere is controversy regarding whether cystic fibrosis (CF) airway epithelial cells (AECs) are intrinsically proinflammatory.
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Lentivirus-mediated gene transfer of interleukin 10 to the ovine and human corneaGene transfer to a donor cornea ex vivo can modulate corneal graft failure in experimental animal models. We compared a lentiviral vector (LV) carrying...
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Vector fields of risk: A new approach to the geographical representation of childhood asthmaOne of the major challenges in health studies with a spatial dimension is to produce valid and meaningful geographical representations of risk.
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The factor structure of the eating disorder examination in clinical and community samplesWe investigated whether children who are heavier at birth have an increased risk of type 1 diabetes
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The -2518bp promoter polymorphism at CCL2/MCP1 influences susceptibility to mucosal but not localizedMucosal leishmaniasis (ML) follows localized cutaneous leishmaniasis (CL) caused by Leishmania braziliensis.
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Updating the profile of C-terminal MECP2 deletions in Rett syndromeThis study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations
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The effects of maternal smoking on early mucosal immunity and sensitization at 12 months of ageIn this study, we examined the effects of maternal smoking as a major adverse exposure in early life, on mucosal immune function and allergen sensitization...