Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
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
Unraveling the Mixing Entropy-Activity Relationship in High Entropy Alloy Catalysts: The More, The Better? [PDF]
Mints VA +5 more
europepmc +1 more source
Everyday environmental exposures and mid-life dietary and physical activity variations: E3 study protocol. [PDF]
Bronas UG +6 more
europepmc +1 more source
Space exploration and lifestyle medicine: a narrative review of its implications for astronaut health and remote Earth-based environments. [PDF]
Giguère R +13 more
europepmc +1 more source
Evaluation of an Optimized Photobiomodulation Protocol for Accelerated Tooth Movement. [PDF]
Jain AV, Basavraddi SM, Naik R.
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Association between social support and life space mobility in older patients after percutaneous coronary intervention: mediating roles of health literacy and intrinsic capacity. [PDF]
Dan Y, Li Q, Xu T, Tu X, Yan L.
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THE TOWER HOUSE SPACE PLANNING AND ACTIVITIES IN OLD CITY SANA’A YEMEN
Abu Bakar Abd Hamid +1 more
openalex +2 more sources

