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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesSystematic sequencing of all X-chromosomal genes in patients with genetic evidence for X-chromosome locus involvement may resolve 58% of Fragile X-negative cases
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International research utilizing the Early Development Instrument (EDI) as a measure of early child development: Introduction to the Special IssueThis opening paper presents the background to this Special Issue devoted to new international research using Early Development Instrument
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Human papillomavirus (HPV)-16/18 AS04-adjuvanted vaccine for the prevention of cervical cancer and HPV-related diseasesHPV-16/18 AS04-adjuvanted vaccine reduces HPV-16/18 infection and associated cervical endpoints in women regardless of age, location, or sexual experience
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Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needsThis white paper discusses the global progress in understanding novel diseases with the aim of encouraging more collaboration between international...
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Neighbourhood characteristics and the rate of identification of young people at ultra-high risk for psychosisThis study aimed to determine if the rate of identification of young people at ultra-high risk for psychosis was associated with the level of social deprivation
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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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Early atherosclerosis relates to urinary albumin excretion and cardiovascular risk factors in adolescents with type 1 diabetesHigher urinary albumin excretion, even within the normal range, is associated with early atherosclerosis
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Midwives' knowledge, attitudes and practice about alcohol exposure and the risk of fetal alcohol spectrum disorderThere is a need for further professional development for midwives on screening and brief intervention regarding alcohol consumption during pregnancy and FASD
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Adolescent Type 1 Diabetes Cardio-Renal Intervention Trial (AdDIT): Urinary screening and baseline biochemical and cardiovascular assessmentsIn adolescents with type 1 diabetes, the group with the highest tertile of albumin excretion showed more evidence of early renal and CV disease
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Maternal supplementation with folic acid and other vitamins and risk of leukemia in offspring: a childhood leukemia international consortium studyOur results suggest that maternal prenatal use of vitamins and folic acid reduces the risk of both ALL and AML