Results 131 to 140 of about 46,607 (299)
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
Approximating fork-join systems via mixed model transformations [PDF]
While product-form queueing networks are effective in analyzing system performance, they encounter difficulties in scenarios involving internal concurrency. Moreover, the complexity introduced by synchronization delays challenges the accuracy of analytic
Dobre, Rares-Andrei +2 more
core +1 more source
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
Eccentricity based graph parameters of subdivision-vertex-vertex (edge-edge) join products
Ain Shams Engineering JournalEffective utilization of graph products are essential for the development of complex networking systems. The graph product can produce a diverse array of fundamental graphs as an application.
Anam Shahzad +4 more
doaj +1 more source
Embeddability of joins and products of polyhedra
Topological Methods in Nonlinear Analysis, 2022 openaire +2 more sources
Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan +7 more
wiley +1 more source
THE DANGER OF "PUTING ALL THE EGGS IN ONE BASKET". SOME CONCERNS REGARDING ROMANIA'S EXTERNAL TRADE [PDF]
Trade patterns across the globe vary in certain ways. For the EU27, the analyzed data suggests that approximately 70% of all Romania's imports, and the same amount of its exports, are intra-community oriented. The question that arises is what will happen
NEGREA Adrian
core
Arthritis Care &Research, EarlyView.Objective We assessed the effectiveness of PrismRA to improve clinical outcomes among patients with rheumatoid arthritis (RA) initiating treatment with a biologic or targeted synthetic disease‐modifying antirheumatic drug (b/tsDMARD). Methods PrismRA incorporated 19 gene expression features and four clinical features to assess a patient's likelihood of
Fenglong Xie +3 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective To explore whether higher body fat and lower lean mass are associated with greater pain and worse patient‐reported physical function in individuals with hip osteoarthritis (OA). A secondary aim was to examine whether pain and patient‐reported physical function differ according to four body composition profiles: high body fat, low lean mass ...
Alexandra Ryan +10 more
wiley +1 more source
Community-based strategies in action: building and sustaining a product differentiation advantage [PDF]
An important reason why individuals join groups or communities is to satisfy their needs for identity. Firms might exploit this societal tendency to gain a competitive advantage. Using the strategic approach adopted by Kiehl’s, a U.S.
Marco S. Giarratana +2 more
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