Results 241 to 250 of about 9,706,348 (372)

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

A TEXT-BOOK OF THE DISEASES OF THE EAR, NOSE NAD PHARYNX [PDF]

open access: green, 1906
D. B. St. John Roosa, Beaman Douglass
openalex   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones   +6 more
wiley   +1 more source

Meeting the Needs of Aboriginal and Torres Strait Islander People With Hearing Loss in the Context of the National Disability Insurance Scheme

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Hearing loss is a poignant issue in many Aboriginal and Torres Strait Islander communities and, without sufficient support, it can also contribute to disabling life experiences. The National Disability Insurance Scheme (NDIS) is intended to provide support to eligible people experiencing disability, however, to effectively serve this ...
Hannah Lack   +4 more
wiley   +1 more source

Aboriginal and Torres Strait Islander Perspectives in Drinking Water Policy: A Realist Review

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Aboriginal and Torres Strait Islander cultures have a deep, enduring connection to water. However, since Australia's colonisation in 1788, water management has shifted, creating ongoing issues for these communities. Notwithstanding the universal recognition of safe drinking water as a human right, significant inequities persist, particularly ...
Margaret Apolima Fono   +8 more
wiley   +1 more source

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