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Multinodular goiter in children: An important pointer to a germline DICER1 mutationThis paper is a clinical report of a boy presenting with a kidney cyst. Family history and genetic analysis revealed the family had a mutation in the DICER1...
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Comment on "Drug discovery: Turning the titanic"We propose that the molecular and cellular events that govern a resolving, rather than an evolving, disease may reveal new druggable pathways.
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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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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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Assessment and management of hypoglycemia in children and adolescents with diabetesThis paper provides clinical practice guidelines for treating low blood sugar in children and adolescents with Type 1 diabetes.
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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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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...