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Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disordersThis study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome
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Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) studyThis genome-wide association study (GWAS) utilises data from the Western Australian Pregnancy Cohort (Raine) Study for 25-hydroxyvitamin D (25(OH)D) levels...
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Community participation for girls and women living with Rett syndromeThis paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.
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Host genetic factors in American cutaneous leishmaniasis: A critical appraisal of studies conducted in an endemic area of BrazilThis paper reviews American cutaneous leishmaniasis (ACL) immunogenetics in the state of Bahia (BA), northeastern Brazil, highlighting the interacting roles...
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Connective tissue growth factor is expressed in bone marrow stromal cells and promotes interleukin-7-dependent B lymphopoiesisHematopoiesis occurs in a complex bone marrow microenvironment in which bone marrow stromal cells provide critical support to the process through direct cell...
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Towards a molecular characterization of autism spectrum disorders: An exome sequencing and systems approachThis paper profiles the functional pattern of DNA variants found at a higher rate in patients with autism spectrum disorder (ASD), X-linked intellectual...
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Environmental, personal, and genetic determinants of response to vitamin D supplementation in older adultsWe aimed to examine genetic and nongenetic determinants of change in serum 25-hydroxyvitamin D (25(OH)D) after supplementation.
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Human active X-specific DNA methylation events showing stability across time and tissuesThe phenomenon of X chromosome inactivation in female mammals is well characterised and remains the archetypal example of dosage compensation via monoallelic...
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Keyhole limpet haemocyanin - A model antigen for human immunotoxicological studiesThis report systematically reviews the human clinical studies that have used trans-cutaneous KLH immunization for assessment of the influence of various...
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Germ-line and somatic DICER1 mutations in pineoblastomaThis study suggests that germ-line DICER1 mutations make a clinically significant contribution to PinB, establishing DICER1 as an important susceptibility...