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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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Adult digit ratio (2D:4D) is not related to umbilical cord androgen or estrogen concentrations, their ratios or net bioactivityRatio of second digit length to fourth digit length (2D:4D) has been extensively used in human and experimental research as a marker of fetal sex steroid...
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Rare childhood cancers—an increasing entity requiring the need for global consensus and collaborationRare childhood cancers have not benefited to the same extent from the gains that have been made for their frequently occurring counterparts.
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Description of total population hospital admissions for cleft lip and/or palate in AustraliaOrofacial clefts are a group of frequently observed congenital malformations often requiring multiple hospital admissions over the lifespan of affected...
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Reduced immune responses in chimeric mice engrafted with bone marrow cells from mice with airways inflammation.During respiratory inflammation, it is generally assumed that dendritic cells differentiating from the bone marrow are immunogenic rather than immunoregulatory.
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Relationship between family quality of life and day occupations of young people with Down syndromeThis study aimed to explore relationships between family quality of life, day occupations and activities of daily living of young persons with Down syndrome.
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Invasive Staphylococcus aureus Infections in Children in Tropical Northern AustraliaWe conducted a retrospective review for all cases of S aureus bacteremia and sterile site infections, for children under 15 years, in northern Australia over...
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Parental experiences of early pulmonary surveillance for children with cystic fibrosis: A research proposal for improved family psychosocial outcomesThe proposed study intends to explore parental experiences, including coping, related to their child's involvement in the early surveillance program.
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Measuring exposure to solar ultraviolet radiation using a dosimetric technique: Understanding participant compliance issuesWe investigated the types and determinants of noncompliance associated with a protocol for use of polysulphone UVR dosimeters.
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Gender differences in the relationships between lean body mass, fat mass and peak bone mass in young adults.The aim of this study was to evaluate the associations between bone mass in young adults and three body composition measurements: lean body mass, fat mass...