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Research

Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome

The genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies.

Research

Long-term employment among people at ultra-high risk for psychosis

We sought to investigate the long-term unemployment rate and baseline predictors of employment status at follow-up in a large ultra-high risk cohort.

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Environment Changes Genetic Effects on Respiratory Conditions and Allergic Phenotypes

Genotype-phenotype associations relating to bronchitis and allergy susceptibility are dependent on the environment

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Assessment of on-time vaccination coverage in population subgroups: A record linkage cohort study

On-time coverage of the 2-4-6 month schedule is only 50-60% across specific population subgroups representing a significant avoidable public health risk

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Clinical and biological progress over 50 years in Rett syndrome

Review of the clinical and biological progress over 50 years in Rett Syndrome

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Maternal Race-Ethnicity, Immigrant Status, Country of Birth, and the Odds of a Child With Autism

In this study, we used 134 204 mother population to examine the odds of ASD with intellectual disability in children from 1994 to 2005 with these features

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Lung function in African infants in the Drakenstein child health study impact of lower respiratory tract illness

Early life lower respiratory tract illness impairs lung function at 1 year, independent of baseline lung function

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Key paediatric messages from the 2016 european respiratory society international congress

In this article, the Group Chairs of the Paediatric Assembly of the European Respiratory Society (ERS) highlight some of the most interesting abstracts presented at the 2016 ERS International Congress, which was held in London.

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Meningococcal serogroup B-specific responses after vaccination with bivalent rLP2086

Assessment of the persistence of bactericidal antibodies up to 4 years after a three-dose schedule of bivalent rLP2086

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Identification of epithelial phospholipase A2 receptor 1 as a potential target in asthma

PLA2R1 is increased in the airway epithelium in asthma, and serves as a regulator of airway hyperresponsiveness, airway permeability, antigen sensitization, and airway inflammation