Results 131 to 140 of about 244,586 (299)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Recent Trends in Metabolomics by NMR Spectroscopy

open access: yesAngewandte Chemie, EarlyView.
AI tools were applied to analyze more than 5 000 publications indexed in Scopus (2018–2025), identifying key trends and research directions in NMR‐based metabolomics. The artificial intelligence‐assisted workflow classified papers into six main fields of application, human health, food and nutrition, veterinary science, plants, environment, and ...
Giorgio Di Paco   +6 more
wiley   +2 more sources

Implementing an Indigenous Research Methodology to Develop a Culturally Appropriate Survey and Yarning Protocol: Challenges With Retention of the Aboriginal Health, Ageing and Disability Workforce

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Aboriginal staff play a vital part in improving culturally safe and effective services and supports for Aboriginal people. Research on the Aboriginal workforce helps advance a culturally safe environment for workers and Aboriginal people accessing health and community services. This study aims to identify the barriers and enablers to workforce
F. Talbot   +10 more
wiley   +1 more source

Effect and Threshold of Endoscopic Findings for CRS Control Status and Long‐Term Outcome Prediction

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background EPOS 2020 defined chronic rhinosinusitis (CRS) disease control using patient symptoms and medication usage but endoscopic findings were considered optional. The effect of adding endoscopic features, an appropriate threshold, and their association with present or future symptom control have not been studied.
Steven Chun‐Kang Liao   +14 more
wiley   +1 more source

Appropriate Medical Therapy Primarily Modifies Type 2 and Severity Biomarkers in Chronic Rhinosinusitis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Appropriate medical therapy (AMT) is first‐line treatment for patients with chronic rhinosinusitis (CRS). We evaluated inflammatory structure, treatment‐induced changes, and biomarker‐outcome associations in AMT‐managed patients. Methods Fifty‐one CRS patients were evaluated before and after AMT which included a combination of oral ...
Asher C. Park   +9 more
wiley   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

open access: yesAnimal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang   +14 more
wiley   +1 more source

Tracing social mechanisms and interregional connections in Early Bronze Age Societies in Lower Austria. [PDF]

open access: yesNat Commun
Furtwängler A   +29 more
europepmc   +2 more sources

Time‐course characterization of intraocular pressure in murine steroid‐induced ocular hypertension: Effects of route, schedule, and concentration

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Steroid‐induced ocular hypertension is a useful mouse model for glaucoma, but published work rarely quantifies how route, dose, and schedule shape the intraocular pressure (IOP) time‐course—hindering reproducibility and forcing labs to pilot protocols.
Nicholas Y. Q. Tan   +4 more
wiley   +1 more source

Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3‐deficient muscular dystrophy

open access: yesAnimal Models and Experimental Medicine, EarlyView.
We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp   +12 more
wiley   +1 more source

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