Results 81 to 90 of about 22,916 (261)

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier   +2 more
wiley   +1 more source

Does simplification hold true for machine translations? A corpus-based analysis of lexical diversity in text varieties across genres

open access: yesHumanities & Social Sciences Communications
Extensive studies have described the linguistic features of human translations and verified the existence of the simplification translation universal. However, little has been known about the linguistic features of machine translations, although machine ...
Jiang Niu, Yue Jiang
doaj   +1 more source

Lexical and Morphological Features of Translational Lithuanian

open access: yesDarnioji daugiakalbystė, 2019
In Lithuanian public and academic discourse, discussions about the influence of English have received considerable attention. Much has been written on the English borrowings in Lithuanian or various translation strategies applied at word, phrase or ...
Vaičenonienė Jurgita   +1 more
doaj   +1 more source

Corpus based study on translator's style

open access: yesFrontiers in Humanities and Social Sciences
Based on a parrallell-corpus of Peter Pan consisting of the original text, Ren Rongrong’s translations and Yang Jingyuan’s translations, the study utilizes tools such as Python, CRIE, Emeditor and ABBYY Aligner to compare 17 linguistic structures of the human translations with machine translations.
openaire   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle   +26 more
wiley   +1 more source

Decoding the Pathophysiology of Autoimmune Diseases—Mechanism, Triggers, and Nanotherapeutics: A Review

open access: yesAdvanced NanoBiomed Research, EarlyView.
This review highlights how autoimmune diseases arise from intertwined immunological, genetic, and environmental factors, emphasizing gut microbiota dysbiosis as a pivotal driver. It outlines emerging nanotechnology‐based strategies—such as liposomes, hydrogels, and polymeric nanoparticles—that enhance targeted drug delivery, minimize systemic toxicity,
Md. Meraj Ansari   +5 more
wiley   +1 more source

A perspective from the Mesozoic: Evolutionary changes of the mammalian skull and their influence on feeding efficiency and high‐frequency hearing

open access: yesThe Anatomical Record, EarlyView.
Abstract The complex evolutionary history behind modern mammalian chewing performance and hearing function is a result of several changes in the entire skeletomuscular system of the skull and lower jaw. Lately, exciting multifunctional 3D analytical methods and kinematic simulations of feeding functions in both modern and fossil mammals and their ...
Julia A. Schultz
wiley   +1 more source

Graman Revisited Once Again: A Reanalysis of the Late Holocene Legacy Faunal Assemblage From GB4 Rockshelter, New South Wales

open access: yesArchaeology in Oceania, EarlyView.
ABSTRACT The archaeological site Graman B4 provided one of the first records of substantial dietary change in ancient Australian Aboriginal society. Initial examination of the faunal remains from this site suggested that Late Holocene hunters reduced their focus on high‐ranked kangaroos to increasingly rely on arboreal possums; and that these ...
Loukas George Koungoulos   +2 more
wiley   +1 more source

SpartanAnatomy.org: Evaluating a new interactive neuroradiology tool for early medical education

open access: yesAnatomical Sciences Education, EarlyView.
Abstract Teaching neuroanatomy through the lens of magnetic resonance imaging (MRI) offers medical students a strong foundation for success. However, many existing MRI learning resources lack interactivity and user‐friendliness, require payment, or include an overwhelming number of labeled structures.
Halie Kerver   +3 more
wiley   +1 more source

Phraséotraduction dans un corpus parallèle médical spécialisé (FR‑AR) sur le Covid‑19

open access: yesILCEA
The Covid‑19 pandemic revealed an urgent need for qualified medical translators, highlighting the lack of specialized training and the potentially serious consequences of translation errors.
Ola Elghamry Sabae, Olivier Kraif
doaj   +1 more source

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