Results 161 to 170 of about 50,278 (280)

Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
A novel de novo NSD2 variant (c.2137G>C, p.Gly713Arg) was identified in a Chinese patient presenting with a syndromic developmental disorder. RNA analysis from patient‐derived material revealed that this missense variant induces aberrant splicing of NSD2 transcripts, resulting in a frameshift and likely a loss‐of‐function protein product.
Shixuan Xu   +7 more
wiley   +1 more source

Performance of shock index, lactate and physician's gestalt in predicting adverse events among critically ill adult patients at an Emergency Department in Tanzania. [PDF]

open access: yesAfr J Emerg Med
Medarakini HG   +9 more
europepmc   +1 more source

Efficient and Adaptive Autonomous Guidance and Control of Planetary Rover With Improved Traction Controller and Dynamic Cost Map

open access: yesJournal of Field Robotics, Volume 43, Issue 4, Page 2848-2866, June 2026.
ABSTRACT Planetary exploration is rapidly gaining importance within the space research community. Autonomous locomotion of rovers requires consideration of several mobility aspects to ensure safety, including avoiding hazardous areas that can cause the robot to become immobilized in soft soil or damaged in sharp terrains.
Alessio De Luca   +3 more
wiley   +1 more source

Gestalt principles

open access: yesScholarpedia, 2008
openaire   +1 more source

Eurocentric Bias in Dysmorphology and Medical Genetics Education

open access: yes
American Journal of Medical Genetics Part A, Volume 200, Issue 6, June 2026.
D' Arcy B. Prendergast   +3 more
wiley   +1 more source

Thrombospondin‐4 is upregulated in abdominal aortic aneurysm: A vasoprotective response with potential therapeutic relevance

open access: yesBritish Journal of Pharmacology, Volume 183, Issue 12, Page 3321-3339, June 2026.
TSP4 is upregulated in human and experimental AAA. TSP4 knockdown accelerated AAA formation and exacerbated both vascular inflammation and remodelling, emphasizing that TSP4 upregulation may represent a protective response against AAA. Our findings suggest that preserving TSP4 could be a useful strategy in the clinical management of AAA.
Laia Blanco‐Casoliva   +10 more
wiley   +1 more source

The ethics of blood stewardship and quantitative futility assessments to predict certain death in neurotrauma patients. [PDF]

open access: yesFront Med (Lausanne)
Karam MN   +18 more
europepmc   +1 more source

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