Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Formation damage simulation of a multi-fractured horizontal well in a tight gas/shale oil formation. [PDF]
J Pet Explor Prod Technol, 2023 Bui D, Nguyen T, Nguyen T, Yoo H.
europepmc +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Numerical simulation of horizontal well network fracturing in glutenite reservoir
Oil & Gas Science and Technology, 2018 Hydraulic fracturing is an economically effective technology developing the glutenite reservoirs, which have far stronger heterogeneity than the conventional sandstone reservoir.
Qi Minhui +4 more
doaj +1 more source
Soft Movable Polymer Gel for Controlling Water Coning of Horizontal Well in Offshore Heavy Oil Cold Production. [PDF]
Gels, 2022 Qu J +5 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han +8 more
wiley +1 more source
Study and Field Trials on Dissolvable Frac Plugs for Slightly Deformed Casing Horizontal Well Volume Fracturing. [PDF]
ACS Omega, 2022 Zhang P, Pu C, Pu J, Wang Z.
europepmc +1 more source
Integral aircraft passenger seat [PDF]
, 1973 Human-engineering approach was used to design integral seat which provides all the safety, comfort, and protective features that can possibly be afforded airline passengers.
Kubokawa, C. C.
core +1 more source
Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons +33 more
wiley +1 more source
In Situ Stress Distribution and Variation Monitored by Microseismic Tracking on a Fractured Horizontal Well: A Case Study from the Qinshui Basin. [PDF]
ACS Omega, 2022 Tian L, Li Z, Cao Y, Liu S, Song Y.
europepmc +1 more source