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Research

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an...

Research

Common variation near ROBO2 is associated with expressive vocabulary in infancy

In this paper we conduct a genome-wide screen and follow-up study of expressive vocabulary in toddlers of European descent from up to four studies of the...

Research

The trajectories of sleep disturbances in Rett syndrome

This paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and...

Research

Diagnostic work-up of neurological syndromes in a rural African setting: Knowledge, Attitudes and practices of health care providers

This publication documented health care provider knowledge, attitudes and practices related to this syndrome in two rural health zones in Bandundu Province,...

Research

Dog walking is associated with more outdoor play and independent mobility for children

It is plausible that dog-facilitated activity rather than dog ownership per se encourages children's physical activity behaviors.

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Anti-infective proteins in breast milk and asthma-associated phenotypes during early childhood

The impact of breast milk feeding on susceptibility to asthma in childhood is highly controversial, due in part to failure of the majority of studies in the...

Research

Confirmation of childhood acute lymphoblastic leukemia Variants, ARID5B and IKZF1, and interaction with parental environmental exposures

The polygenic nature of childhood ALL predisposition together with the timing of environmental triggers may hold vital clues for disease etiology.

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ViPAR: A software platform for the Virtual Pooling and Analysis of Research Data

ViPAR is a secure, flexible and powerful analysis platform built on open source technology that is currently in use by large international consortia

Research

Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndrome

This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic factors

Research

Successful Treatment of Congenital Erythroleukemia With Low-Dose Cytosine Arabinoside

We report a term male with congenital acute erythroleukemia who achieved sustained remission with low-dose cytosine arabinoside alone