Results 161 to 170 of about 47,549 (275)

Disclosing the True Critical Point of Fluids Confined in Nanopores. [PDF]

open access: yesLangmuir
Owusu-Banahene EK   +3 more
europepmc   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi   +11 more
wiley   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington   +7 more
wiley   +1 more source

Decoding the Pathophysiology of Autoimmune Diseases—Mechanism, Triggers, and Nanotherapeutics: A Review

open access: yesAdvanced NanoBiomed Research, EarlyView.
This review highlights how autoimmune diseases arise from intertwined immunological, genetic, and environmental factors, emphasizing gut microbiota dysbiosis as a pivotal driver. It outlines emerging nanotechnology‐based strategies—such as liposomes, hydrogels, and polymeric nanoparticles—that enhance targeted drug delivery, minimize systemic toxicity,
Md. Meraj Ansari   +5 more
wiley   +1 more source

Absence of Hofmeister Selectivity in Hydrophobic Ion-Exchanger Nanopores. [PDF]

open access: yesAnal Chem
Solymosi GT   +3 more
europepmc   +1 more source

NanoSSL: attention mechanism-based self-supervised learning method for protein identification using nanopores. [PDF]

open access: yesBioinformatics
Xie Y   +9 more
europepmc   +1 more source

A Review on Magnesium Based Metal Hydrides for Thermal Energy Storage Systems

open access: yesAsia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT The hydrogen storage in metal hydrides is an imminent, innovative, and environmentally beneficial approach that offers benefits for example, an ample amount of storage and elasticity in terms of thermodynamics necessary for hydrogen absorption and release.
Asif Nizam   +3 more
wiley   +1 more source

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