Results 131 to 140 of about 314,819 (198)

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth   +7 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr   +7 more
wiley   +1 more source

The Legislation for Providing Animal Access in Australian Residential Aged Care: It's Not a Zoo

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Providing meaningful animal contact to residential aged care facility (RACF) residents is problematic due to a lack of animal policies and National Guidelines. This paper examines how Australian Legislation could influence access to animal contact in RACFs and aims to answer the question, ‘Could current Legislation facilitate the development ...
Wendy Newton   +2 more
wiley   +1 more source

First-line ET plus palbociclib versus standard mono-chemotherapy in high-risk HR-positive/HER2-negative metastatic breast cancer and indication for chemotherapy: primary results from the randomized phase IV PADMA study. [PDF]

open access: yesESMO Open
Schmidt M   +18 more
europepmc   +1 more source

Quantifying the Sites of Government, Commercial, and Personal Systems‐Perpetrated Financial Abuse

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This study explores the institutional systems through which post‐separation financial abuse is perpetrated. While existing measures seek to quantify the harms experienced by women post‐separation, this study draws on financial, welfare and legal service casefiles to identify where such harms occur. Drawing on 76 de‐identified Victorian service
Kay Cook   +3 more
wiley   +1 more source

Alcohol and Other Drug Vocational Education and Training in Australia: Changes in the Landscape From 2011 to 2024

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT People impacted by alcohol and other drugs (AOD) are supported across a range of health and social service settings, often by workers in generalist roles who may not have specialist training. Vocational education and training (VET) plays a key role in equipping AOD workers with the knowledge and skills required for practice, yet there is no ...
Kirrilly Thompson   +6 more
wiley   +1 more source

‘Shelter is a Dignity’: Rental Racism, Stress and Housing (In)justice

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Australia's private rental sector is in crisis, and culturally and racially minoritised renters face compounded harms through both covert and everyday direct forms of rental racism. Drawing on five community‐based focus groups in Melbourne (n = 37), the paper explores how racism manifests across the rental pathway and how it structures the ...
Erika Martino   +3 more
wiley   +1 more source

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