Results 101 to 110 of about 700,727 (353)
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
Citation: 'in silico' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.15808 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
openaire +2 more sources
Studi In Silico Senyawa Herba Binahong (Anredera cordifolia) Sebagai Inhibitor Aldose Reduktase [PDF]
, 2023 Aisyah Safira Mulia +5 more
openalex +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
Recombination luminescence in N-type Czochralski silicon [PDF]
Recombination luminescence in Czochralski ...
Compton, W. D., Spry, R. J.
core +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Scientific ReportsPhthalic acid esters are pivotal plasticizers in various applications, including cosmetics, packaging materials, and medical devices. They have garnered significant attention from the scientific community due to their persistence in ecosystems.
Khushboo Sharma +2 more
doaj +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.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
Scientific ReportsNatural products (NPs) are secondary metabolites that exert their biological effects within and on other organisms. Bacteria are considered potent producers of bioactive natural compounds, due to their versatile biocatalytic activity.
Anushka Bhrdwaj +2 more
doaj +1 more source
Applied Bionics and Biomechanics, 2017 Background. Lower extremity analysis for preoperative total knee and hip arthroplasty routines can increase surgery success rate and hence reduce associated costs. Current tools are limited by being invasive, limited to supine analysis, or too expensive.
Frederick Greatrex +4 more
doaj +1 more source