Results 251 to 260 of about 3,018,067 (331)

Beyond Huntington's Disease - Late-Onset Chorea Caused by a Homozygous Variant in ERCC4. [PDF]

Cerebellum
Barthel PC, Popa B, Ebert A, Mohamed SA, Weishaupt J, Conrad J.   +5 more
europepmc   +1 more source

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

When comedones mislead: a dermoscopic and histological clue to follicular dowling-degos disease. [PDF]

An Bras Dermatol
Garg S, Yadav A, Antakanavar GM, Singh M, Hasan Z.   +4 more
europepmc   +1 more source

Fluoroquinolone‐Associated Psychiatric and Ocular Adverse Events: A Disproportionality Analysis Using Real‐World Data From FAERS (2011–2024)

Pharmacology Research &Perspectives, Volume 14, Issue 1, February 2026.
This pharmacovigilance study identifies a wide range of rapid‐onset neuropsychiatric and ocular adverse effects linked to fluoroquinolones (FQ). Disproportionality analysis revealed a disproportionate reporting of suicidal ideation and visual impairment following FQ treatment, emphasizing the urgent need for cautious prescribing and strengthened safety
Hau‐Tak Chau, Ngan Pan Bennett Au
wiley   +1 more source

The rhythm of sensory input shapes audio‐visual temporal processing

British Journal of Psychology, Volume 117, Issue 1, Page 314-336, February 2026.
Abstract The temporal relationship between incoming signals is crucial in determining whether multisensory information is integrated into unitary percepts. Temporal binding windows (TBWs) define the time range within which multisensory inputs are highly likely to be perceptually integrated, even if asynchronous.
Denisa Adina Zamfira, Giuseppe Di Dona, Gianluca Marsicano, Martina Battista, Luca Battaglini, Luca Ronconi   +5 more
wiley   +1 more source

Photoswitchable Peptides as Molecular Tools to Encode Structural Order and Disorder in Intracellular Assemblies

Angewandte Chemie International Edition, Volume 65, Issue 3, 16 January 2026.
We present a photoswitchable peptide conjugate which exhibits isomerism‐dependent self‐assembly: the planar trans‐isomer assembles into well‐ordered nanofibers while the non‐planar cis‐isomer yields disordered aggregates. Our study offers a direct visualization on the effects of structure formation inside living cells.
Julian Link, Luca Burg, Sarah Chagri, Ha‐Chi Nguyen, David Y.W. Ng, Bart Jan Ravoo, Tanja Weil   +6 more
wiley   +1 more source

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing. [PDF]

Clin Case Rep
Nishi E, Yanagi K, Shima M, Yamazaki N, Kawato K, Narita A, Sakai N, Okamoto N, Yanagihara K, Kaname T.   +9 more
europepmc   +1 more source

Influence of scan mode, tilt, and radiation dose on CT radiomic metrics

Journal of Applied Clinical Medical Physics, Volume 27, Issue 1, January 2026.
Abstract Background Radiomic features derived from computed tomography (CT) are highly susceptible to variations in acquisition parameters, which can introduce confounding effects in multicenter research and reduce diagnostic accuracy. While the effects of parameters such as scanning mode and dose have been studied, the impact of gantry tilt—despite ...
Neha Yadav, Xiaomeng Lei, Steven Y. Cen, Joshua Levy, Kristin Jensen, Bino A. Varghese   +5 more
wiley   +1 more source

Queilitis actínica: aspectos histológicos, clínicos y epidemiológicos

Revista Cubana de Estomatología
Carolina Hernández Osorio, Bernardita Fuentes Palma, Ricardo Cartes-Velásquez   +2 more
doaj  

Porphyria Cutanea Tarda: A Phenotypic Expression of Several Genes. [PDF]

Cureus
Vázquez-Folch SJ, Jimenez-Berrios GA, Izquierdo N, Vazquez V.   +3 more
europepmc   +1 more source