RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Sensitivity Assessment of Macroscopic Mechanical Responses of Cemented Sand and Gravel to Mesoscopic Parameters Using an Improved MULTIMOORA Method. [PDF]
Shi Z, Li F, Zhang Y.
europepmc +1 more source
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec +6 more
wiley +1 more source
Study on Optimizing Process Parameter of Freeze-Drying Bananas
陈仪男
doaj +2 more sources
Heat generation-driven thermal transport in radial casson fluid flow over a stretching surface. [PDF]
Hussain SM +10 more
europepmc +1 more source
Computational analysis of chemically reactive MHD Ellis hybrid nanofluid flow through a porous medium with thermal radiation and activation energy over a stretching cylinder. [PDF]
Lakshmi BN +7 more
europepmc +1 more source
Numerical and neural-network analysis of Casson hybrid nanofluid flow and heat transfer in a sinusoidally stenosed artery. [PDF]
Zeshan M +5 more
europepmc +1 more source
Retrospective CBCT-based anatomical assessment of mandibular first and second molars: a cross-sectional study with potential implications for immediate implant planning. [PDF]
Othman B.
europepmc +1 more source

