Results 111 to 120 of about 590,083 (218)

Artificial Intelligence and Access to Justice at the ‘Shop Front’: The Potential and Limitations of Meeting Legal Need Through Technology

Australian Journal of Social Issues, EarlyView.
ABSTRACT In Australia, governments fund Community Legal Centres (CLCs) as part of the legal assistance sector (LAS) to meet the ‘legal needs’ of people experiencing disadvantage who cannot afford private legal services. Persistent unmet demand for CLCs is well‐documented. As artificial intelligence (AI) is increasingly used in private legal practice to
Catherine Hastings, Art Cotterell, Farzana Bruce   +2 more
wiley   +1 more source

To What Extent Do Australian Government Metrics Align With Indigenous and Non‐Indigenous Conceptualisations of Wellbeing? A Scoping Review of Wellbeing Frameworks

Australian Journal of Social Issues, EarlyView.
ABSTRACT Indigenous wellbeing theories offer potential to better measure social and cultural determinants. This scoping review aimed to identify the types of metrics used by the Australian government to assess wellbeing and evaluate the alignment of current frameworks against Indigenous and non‐Indigenous conceptualisations of wellbeing.
Sophie Wright‐Pedersen, Edward J. O'Connor, Megan Rebuli, Tiana Thorne, Naomi Kakoschke, Ray Mahoney   +5 more
wiley   +1 more source

A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing. [PDF]

Front Mol Neurosci, 2022
Peng Q, Zhang Y, Xian B, Wu L, Ding J, Ding W, Zhang X, Ding B, Li D, Wu J, Hu X, Lu G.   +11 more
europepmc   +1 more source

Olfactory Function in Cystic Fibrosis: Outcome Measures, Olfactory Dysfunction Prevalence and the Impact of Management—A Systematic Review and Meta‐Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory dysfunction (OD) is an increasingly recognized but under‐investigated comorbidity of cystic fibrosis (CF). Its prevalence, assessment methods, and response to CF‐directed treatment, including highly effective modulator therapy (HEMT) remains incompletely characterized.
Luca Cox, Kofi Cox, Katherine Whitcroft, Susanne Weise, Sonal Kansra, Eishaan Bhargava   +5 more
wiley   +1 more source

VIRTUALIZATION TECHNOLOGIES SYSTEMATIZATION

Ìнформаційні технології в освіті, 2012
The paper advices a generalized variant of virtualization technologies systematization. The concerned variant has been constructed of quite a number of variants and aims to reveal relations between numerous existing terms, including synonymous ones, and ...
O. Golovnya
doaj  

Quantifying negative selection on synonymous variants

HGG Advances
Summary: Widespread adoption of DNA sequencing has resulted in large numbers of genetic variants, whose contribution to disease is not easily determined.
Mikhail Gudkov, Loïc Thibaut, Eleni Giannoulatou   +2 more
doaj   +1 more source

A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype. [PDF]

Genes (Basel), 2021
Tuncel G, Kaymakamzade B, Engindereli Y, Temel SG, Ergoren MC.   +4 more
europepmc   +1 more source

Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing

What is already known about this topic? \u25e6. ADSL deficiency is a rare metabolic disorder, typically diagnosed postnatally with variable severity. \u25e6. ADSL activity is known to be reduced in affected patients. \u25e6.
Zikanova, Marie, Strizek, Brigitte, Velmans, Clara, Karakaya, Mert, Netzer, Christian, Skopova, Vaclava, Mrazova, Lenka Steiner, Klapperich, Ayseg\ufcl   +7 more
core   +1 more source

Systematic pathway‐level analysis defines conserved transcriptional divergence between primary lung tumors and cell line models

Animal Models and Experimental Medicine, EarlyView.
Lung cancer cell lines diverge substantially from primary tumors at the transcriptional level. Using single‐sample gene set enrichment analysis and L1‐penalized feature selection across TCGA‐LUAD and CCLE‐LUAD, we identified five Hallmark pathways (E2F targets, G2M checkpoint, IFNγ response, coagulation, and EMT) that discriminated primary tumors from ...
Pritam Bera, Rajesh Raju, Debodipta Das
wiley   +1 more source

A Novel Synonymous Variant in the AVP Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA Missplicing

, 2018
Objective: Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI) is characterized by severe polyuria and polydipsia and is caused by variations in the gene encoding the AVP prohormone. This study aimed to ascertain a correct diagnosis,
Kvistgaard, H., Gregersen, N., Johansson, Jan-Ove,, Corydon, T. J., Christensen, J. H., Rittig, S., Rittig, C. S.   +6 more
core   +1 more source