Results 181 to 190 of about 120,417 (300)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli   +11 more
wiley   +1 more source

Kinetic Analysis of Transmetalation at Prototypical Nickel(II) Catalyst Species: Rates, Mechanisms, and Implications for Catalysis

open access: yesAngewandte Chemie, EarlyView.
A 31P{1H} NMR method enabling direct measurement of transmetalation at Ni(II) is disclosed, providing an extensive kinetic dataset. Rates span five orders of magnitude and exhibit strong ligand dependence, with monodentate ligands promoting transmetalation.
Nicholas S. D. Solomon   +3 more
wiley   +2 more sources

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland   +4 more
wiley   +1 more source

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington   +2 more
wiley   +1 more source

Experimental performance comparison of fixed and single-axis subfields in a large-scale outdoor photovoltaic power plant. [PDF]

open access: yesSci Rep
Abderraouf B   +7 more
europepmc   +1 more source

Supporting Aged Care Worker Wellbeing: A Qualitative Document Analysis of the Strengthened Aged Care Quality Standards

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Aged care work is physically and emotionally demanding. Workers can feel disempowered, vulnerable and at increased risk of experiencing work‐related stress. This in turn can result in sub‐optimal care and staff shortages. This study aimed to investigate what provisions exist within Australia's strengthened Aged Care Quality Standards to ...
Sharon Stoddart   +11 more
wiley   +1 more source

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