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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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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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Mother's love for bacterial babies: the commitment of Audrey Michael, Mition Yoannes and Tilda Orami to medical researchFace-to-face interviews were conducted with all three women for the purpose of profiling women who are leaders in health and medicine in Papua New Guinea.
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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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Maternal mental health and risk of child protection involvement: Mental health diagnoses associated with increased riskThis WA data linkage study aims to assess whether maternal mental health problems are associated with worse child development outcomes, children’s safety and...
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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...
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The association between prenatal environment and children’s mental health trajectories from 2 to 14 yearsThis study aimed to elucidate how an adverse prenatal environment, as defined by the presence of a number of known prenatal risk factors, would influence...
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Contact with the juvenile justice system in children treated with stimulant medication for attention deficit hyperactivity disorderWe aimed to investigate juvenile justice encounters in children with and without ADHD.