Results 141 to 150 of about 5,901,623 (279)

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

The role of pragmatic mechanisms in referential communication and categorization: An emergent communication model. [PDF]

PLoS Comput Biol
Kobrock K, Ohmer X, Bruni E, Gotzner N.
europepmc   +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

Neuropragmatics: from classical pragmatics to neurocognitive models of pragmatics in dialogue. [PDF]

Front Psychol
Gutiérrez Cisneros A, Foucart A, Brunellière A.   +2 more
europepmc   +1 more source

Delayed Recognition of Maternal G6PD Heterozygous Status Across Prenatal and Newborn Care Interfaces

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is the most common red blood cell enzymatic disorder worldwide. Although many heterozygotes are asymptomatic, affected neonates have an increased risk for hyperbilirubinemia and related complications.
Mona M. Makhamreh, Ramiah R. Vickers, Cheryl Mensah, Wanda Dosal, Jennifer R. McKinney, April D. Adams   +5 more
wiley   +1 more source

What is being measured by formal thought disorder scales? An item-level content analysis. [PDF]

Psychol Med
Sreeraj VS, Voppel A, Venkatasubramanian G, Palaniyappan L.   +3 more
europepmc   +1 more source

Stakeholder Perspectives on Therapeutic and Safe Building Design in Residential Care

Australian Journal of Social Issues, EarlyView.
ABSTRACT Residential care is a form of out‐of‐home care that plays a critical role in supporting vulnerable young people in Australia. However, there is an evidence gap regarding the built environment in this context. This research aimed to explore the perspectives of key stakeholders in residential care in Victoria, Australia, regarding design that ...
Carmen Schroder, Olivia Crivari, Phillippa Carnemolla, Libby Callaway   +3 more
wiley   +1 more source

The Physical and Mental Metaphors (PMM) task and its validation in schizophrenia: A tool for rapid assessment of figurative language comprehension, between pragmatics and symptoms. [PDF]

Schizophr Res Cogn
Bischetti L, Bambini V, Agostoni G, Bechi M, Buonocore M, Sapienza J, Frau F, Martinelli G, Pompei C, Scalingi B, Spangaro M, Martini F, Cocchi F, Cavallaro R, Bosia M.   +14 more
europepmc   +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

Diblock Copolymer Nanoparticles Act as Nanoreactors for the Synthesis of Sterically‐Stabilized Inorganic Oxide Particles in Non‐polar Media

Angewandte Chemie, EarlyView.
Poly(lauryl methacrylate)‐poly(2‐hydroxyethyl methacrylate) (PLMA‐PHEMA) diblock copolymer nanoparticles prepared in non‐polar media serve as nanoreactors for the in situ synthesis of silica from tetraethyl orthosilicate (TEOS). A silica mass loading of 17% as judged by thermogravimetric analysis (TGA) produces a highly transparent dispersion, and ...
Priyanka Chohan, Andi Xie, Oleksandr O. Mykhaylyk, Steven P. Armes, Giles M. Prentice, David J. Atkinson, Andrew J. Smith   +6 more
wiley   +2 more sources