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Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2Overview of all published mutations for the two Kabuki syndrome genes and point out possible mutation hot spots and strategies for molecular genetic testing
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Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methodsExisting quality of life scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome
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Maternal WorkâFamily Conflict and Psychological Distress: Reciprocal Relationships Over 8 YearsEmployed mothers may benefit from policies and workplace practices that promote maternal well-being and reduce conflicts between employment and raising children
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The -308 bp TNF gene polymorphism influences tumor necrosis factor expression in leprosy patients in Bahia State, BrazilTNF mRNA expression was higher in leprosy patients compared to endemic controls, but did not differ significantly between clinical subgroups
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A novel clinical prediction model for prognosis in malignant pleural mesothelioma using decision tree analysisA simple, clinically relevant model to reliably discriminate patients at high and lower risk of death in patients with malignant pleural mesothelioma
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Timing of excision after a non-severe burn has a significant impact on the subsequent immune response in a murine modelEarly excision of the wound, during the phase of immune down-regulation initiated by the burn, maintains an innate and adaptive immune cell response
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Temporal trends in cerebral palsy by impairment severity and birth gestationRates of cerebral palsy in Victoria decreased between the mid-1990s and 2009 for neonatal survivors of all birth gestations
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N-3 fatty acid supplementation and leukocyte telomere length in patients with chronic kidney diseaseReducing oxidative stress, could modify telomere erosion during cell replication, and cardiovascular disease risk in patients with chronic kidney disease
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The effect of siblings and family dog ownership on children's independent mobility to neighbourhood destinationsEffects of siblings and dog ownership on children's independent mobility
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Asbestos exposure: Challenges for Australian cliniciansAnxiety and the inability to reduce MM risk following exposure or to halt progression of established asbestosis result in significant health care problems