Results 131 to 140 of about 16,675 (221)
Beyond the Gold Standard: Towards Industrially Viable Electrodes for Durable Perovskite Solar Cells
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
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
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
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
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
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
A Likelihood Approach to Proper Analysis of Secondary Outcomes in Matched Case-Control Studies. [PDF]
Liu S, Diao G.
europepmc +1 more source
Insights into ANKRD11‐related epilepsy from 163 people
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
From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort. [PDF]
Szalai R +5 more
europepmc +1 more source
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

