Results 111 to 120 of about 1,147,215 (284)

Pragmatic Markers, Discourse Markers and Modal Particles. New perspectives

, 2017
This book offers new perspectives into the description of the form, meaning and function of Pragmatic Markers, Discourse Markers and Modal Particles in a number of different languages, along with new methods for identifying their ‘prototypical’ instances
Sansò, Andrea, Fedriani, Chiara
core   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Exploring Interlanguage Pragmatics: An Analysis of Italian Pragmatic Markers in Learner Corpora

Journal of Linguistics and Language Teaching
(English) This study compares the frequency and function of Italian pragmatic markers (quindi, allora, dunque) within the UniC learner corpus (Greek learners, B2-C1) and the native Coris Corpus.
Katerina Florou, Dimitris Bilianos
doaj   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Pragmatic Markers in Spanish, Types and Frequency

, 2011
The objective of this thesis is to examine which types of pragmatic markers are represented in coloquial Spanish and establish the frequency they occur wiht in native and nonnative speakers.
HARTVICHOVÁ, Iva
core  

Barriers and Enablers for Effective Support Coordination in the National Disability Insurance Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT Support coordinators act as intermediaries between the National Disability Insurance Scheme (NDIS) and participants, facilitating access to funded supports. To optimise outcomes, they must navigate NDIS complexities, identify services that meet individual needs and engage with diverse stakeholders.
Sharyn McDonald, Lee Cubis, Di Winkler, Jacinta Douglas   +3 more
wiley   +1 more source

How Are Australian Local Governments Responding to the Homelessness Crisis? Findings From a National Study

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australian local governments are facing intensifying pressures to respond to worsening visible homelessness. This paper presents one of the first national studies on how local governments are responding to these pressures, and the first since the onset of the post‐pandemic housing crisis.
Andrew Clarke, Joelle Moore, Fatemeh Aminpour, Katya Eagles   +3 more
wiley   +1 more source

Public Attitudes Toward Compassionate Release of Older People From Prison: Findings From a National Survey in Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT The rapid increase in older people in prison populations worldwide is generating significant health, cost, and human rights pressures on custodial systems. Compassionate release for older, frail inmates is a potentially effective response, yet little is known about public support for this approach.
Ye In (Jane) Hwang, Natasha Ginnivan, Amanuel Kidane Hagos, Tony Butler   +3 more
wiley   +1 more source

Clinical Longitudinal Evaluation After Regimen Stop (CLEAR) of Dupilumab in Chronic Rhinosinusitis With Nasal Polyps (CRSwNP)

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Long‐term management strategies for severe chronic rhinosinusitis with nasal polyps (CRSwNP) increasingly include biologic therapy targeting Type 2 inflammation. However, data on outcomes after complete discontinuation of dupilumab following sustained disease control are scarce.
Patrick Huber, Manuel Lasch, Veronika Volgger, Clemens Stihl, Philipp Teupe, Fabienne Oettgen, Sophia Gantner, Moritz Gröger   +7 more
wiley   +1 more source