Results 141 to 150 of about 2,920 (255)

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim   +12 more
wiley   +1 more source

Modulating Local Coordination in Single‐Atom Catalysts: From Fundamental Concepts to Emerging Breakthroughs in Electrocatalysis

open access: yesAngewandte Chemie, EarlyView.
This review summarizes atomic‐level design strategies for single‐atom catalysts, emphasizing modulation of the local coordination environment, active‐site geometry, and metal‐support interactions to optimize catalytic activity and stability in electrocatalytic energy conversion applications.
Ashwani Kumar, Harun Tüysüz
wiley   +2 more sources

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

Making Sense of Standardised Assessment Data: A Response to Snow et al. (2025)

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT I write in response to the commentary by Snow et al. (2025) on the paper Are Australian students' academic skills declining? Interrogating 25 years of national and international standardised assessment data published in this journal (Larsen 2024).
Sally A. Larsen
wiley   +1 more source

Nanostructured Deep Eutectic Systems in Healthcare: From Bioactive Solvents to Intelligent Biointerfaces, Wearables, and AI‐Driven Design

open access: yesAdvanced NanoBiomed Research, EarlyView.
Beyond the green solvent paradigm, this review redefines Deep Eutectic Systems (DES) as programmable supramolecular nanoassemblies. We survey their biomedical convergence: stabilizing thermolabile mRNA to enable cold chain‐free logistics, reshaping transdermal microneedle delivery, enabling long‐term wearables via eutectogels, and utilizing Generative ...
Jeesu Moon, Min Seo Kim, Jae‐Seung Lee
wiley   +1 more source

A Review of Finite Element Analysis in Spine Surgery Decision-Making. [PDF]

open access: yesJ Clin Med
Beaulieu E   +9 more
europepmc   +1 more source

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