Results 191 to 200 of about 82,001 (268)

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1156-1161, May 2026.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston   +35 more
wiley   +1 more source

Maternal Fish Intake in the Year Prior to Conception and Birth Defects, National Birth Defects Prevention Study, 1997–2011

open access: yesBirth Defects Research, Volume 118, Issue 5, May 2026.
ABSTRACT Background Epidemiologic data on the association between maternal fish intake and birth defects are sparse. Our objective was to assess associations between maternal fish intake and 52 different birth defects, most of which have not been assessed previously.
Dorothy Kim Waller   +10 more
wiley   +1 more source

Chemical Profiling and Biological Activity of Copaiba Oil‐Resin Samples and Development of HPLC‐DAD Method for the Analysis of β‐Caryophyllene

open access: yesBiomedical Chromatography, Volume 40, Issue 5, May 2026.
ABSTRACT The Copaifera species are traditionally used for their anti‐inflammatory, antiseptic and healing properties. The objective of this study was to compare the chromatographic profiles of seven samples of copaiba oil‐resin with respect to chromatographic and physicochemical properties and to evaluate their biological activities.
Gabriel de A. P. Graça   +13 more
wiley   +1 more source

Critical Discourse Analysis in Corporate Reports: Legitimation Strategies in the Context of Environmental Controversies

open access: yesCorporate Social Responsibility and Environmental Management, Volume 33, Issue 3, Page 3563-3581, May 2026.
ABSTRACT This study examines the use of environmental disclosure as a strategic tool to manage legitimacy crises in a mining company, adopting critical discourse analysis (CDA) as the main methodology. Focusing on a case of environmental disaster, this research reveals how corporate narratives can be manipulated to minimize responsibility and reinforce
Renata Luiza de Castilho Rossoni   +1 more
wiley   +1 more source

Self‐Reported Health‐Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Multiple studies have assessed Health‐Related Quality of Life (HRQoL) in children with urea cycle disorders (UCDs); investigations in adults with the same disorders are rarer. Understanding the variables that modify self‐reported HRQoL has become increasingly important as novel treatments are developed, with clinically meaningful endpoints ...
Curtis R. Coughlin II   +25 more
wiley   +1 more source

Anti-VEGF injection frequency correlates with visual acuity outcomes in pro re nata neovascular AMD treatment. [PDF]

open access: yesSci Rep, 2019
Wecker T   +7 more
europepmc   +1 more source

Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Acid sphingomyelinase deficiency (ASMD) is a rare debilitating lysosomal storage disease resulting in multisystemic disease manifestations, significant disease burden, and early mortality for some individuals. Enzyme replacement therapy (ERT) with olipudase alfa (Xenpozyme) is the first disease‐specific treatment indicated for noncentral ...
Melissa P. Wasserstein   +20 more
wiley   +1 more source

Dry–Hot Compound Events Driving the 2024 Pantanal Wildfires

open access: yesInternational Journal of Climatology, Volume 46, Issue 6, May 2026.
Extreme wildfires in the Pantanal in 2024 were driven by a cascade of heatwaves, rainfall deficits and the absence of the annual flood pulse. These conditions dried soils and rivers, enhanced fuel accumulation and enabled early and intense fire outbreaks.
Liz B. C. Belém   +14 more
wiley   +1 more source

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