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Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndromeThe genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies.
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Prevalence and treatment of psychiatric disorders other than psychosis in children and adolescents with 22q11DS: Examining associations with social and role functioningThe aim of this study was to investigate the prevalence and treatment of non-psychotic psychiatric disorders
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Environment Changes Genetic Effects on Respiratory Conditions and Allergic PhenotypesGenotype-phenotype associations relating to bronchitis and allergy susceptibility are dependent on the environment
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Functional abilities in children and adults with the CDKL5 disorderAlthough abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities
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Informing rubella vaccination strategies in East Java, Indonesia through transmission modellingA single dose of rubella vaccine will take longer to reduce the burden of rubella and will be less robust to lower vaccine coverage
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Exploring the potential to use data linkage for investigating the relationship between birth defects and prenatal alcohol exposureThere was a significant association between maternal alcohol-related diagnoses recorded during pregnancy and ARBD, with an attributable fraction of 0.57%.
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Recombinant house dust mite allergensHouse dust mites (HDM) are a globally important source of allergen responsible for the sensitization of more than 50% of allergic patients.
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Climate change, child health and the role of the paediatric profession in under-resourced settingsClimate change and its health impacts are increasingly recognised by the world's leading medical organisations and journals.
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Intracellular growth of Mycobacterium avium subspecies and global transcriptional responses in human macrophages after infectionMycobacterium avium subsp. avium (Maa) and M. avium subsp. hominissuis (Mah) are environmental mycobacteria and significant opportunistic pathogens.
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A novel retro-inverso peptide is a preferential JNK substrate-competitive inhibitorA novel 18 amino acid peptide PYC98 was demonstrated to inhibit JNK1 activity toward c-Jun.