Results 131 to 140 of about 16,675 (221)

Beyond the Gold Standard: Towards Industrially Viable Electrodes for Durable Perovskite Solar Cells

open access: yesAdvanced Energy Materials, Volume 16, Issue 34, 9 September 2026.
Transparent and opaque electrode materials are mapped by raw material cost per 1 m2 electrode area and retained median device efficiency after heat–light ageing. FTO offers a lower‐cost and more stable alternative to ITO, while Cr/Al provides the lowest‐cost rear electrode investigated with Au‐like stability and substantially improved durability ...
Tino Lukas   +17 more
wiley   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2067-2079, September 2026.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli   +18 more
wiley   +1 more source

Identification of the Genomic Etiology of Unexplained Congenital Problems in Pediatric Patients: First Reported Case With Coffin–Siris Syndrome and Sialuria From India

open access: yesClinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Coffin–Siris syndrome (CSS) (OMIM:614608) is a rare genetic disorder characterized by global developmental delay (GDD), speech impediment, coarse facial features, and hypoplastic or absent fifth fingernails/toenails. Genetic variants in the SMARCB1 gene are associated with CSS, benign tumors (schwannomas), and rhabdoid tumor predisposition ...
Aparna Bhanushali   +6 more
wiley   +1 more source

From Undifferentiated Connective Tissue Disease to Common Variable Immunodeficiency: A Novel NFKB1 Mutation in a Pediatric Case

open access: yesClinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Common variable immunodeficiency (CVID) may initially manifest as undifferentiated connective tissue disease (UCTD) in the absence of recurrent infections or hypogammaglobulinemia. In patients presenting with warning signs, neither older age nor normal immunoglobulin levels should preclude consideration of CVID; early genetic testing is ...
Yu‐Jie Hu   +4 more
wiley   +1 more source

Development and Validation of PubMed and Ovid MEDLINE Search Filters for Exposure Pathways Linking Climate Change With Public Health

open access: yesCochrane Evidence Synthesis and Methods, Volume 4, Issue 5, September 2026.
ABSTRACT Introduction Climate change has major health impacts to which researchers and policymakers need to respond. The volume and multidisciplinary nature of climate‐health evidence pose challenges to its comprehensive identification. Search filters are currently not available for this topic.
Maria‐Inti Metzendorf   +6 more
wiley   +1 more source

The Roles of Contrasting Host Types on the Environmental Abundance of Anaplasma phagocytophilum, an Emerging Zoonotic Pathogen

open access: yesEcology and Evolution, Volume 16, Issue 9, September 2026.
In this study, we analysed data collected at 40 sites in the Northwest of Scotland (from 2018 to 2020) to quantify the relative contributions of hypothesised pathogen transmission hosts (deer and sheep) and non‐transmission hosts (birds and rodents) on the environmental abundance of ecotypes I and II of Anaplasma phagocytophilum. Our results add to our
William McLellan   +8 more
wiley   +1 more source

Insights into ANKRD11‐related epilepsy from 163 people

open access: yesEpilepsia, Volume 67, Issue 9, Page 4922-4938, September 2026.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su   +6 more
wiley   +1 more source

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long‐Read Sequencing and RNA Analysis

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
Long‐read sequencing phased multiple VPS41 variants and established the biallelic configuration in a patient with autosomal recessive spinocerebellar ataxia 29. Transcript analysis revealed distinct allele‐specific splicing abnormalities, while the patient also showed clinical features beyond the typical phenotype.
Natsuki Nakamura   +17 more
wiley   +1 more source

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