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Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study
Published 2025-02-01“…Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease. Most patients with SMA have a mutation in the survival motor neuron 1 (SMN1) gene on chromosome 5q. …”
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602
Molecular Patterns of MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever: A Retrospective Cohort Study
Published 2019-01-01“…Familial Mediterranean Fever (FMF) is a hereditary autosomal recessive disease which is mainly seen in the Turks, Armenians, Arabs, and Jews. …”
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603
Interleukin IL1a and IL6 gene polymorphism: search for association with APOE genotype and clinical course of sporadic Alzheimer’s disease
Published 2019-09-01“…Controlling by APOE4 status, the inheritance of IL1A -889C>T or IL6 -174G>C polymorphisms (dominant, overdominant, and recessive models) did not significantly alter the odds ratio for sporadic AD (p<0.05). …”
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604
Evaluation of eco-driving performance of electric vehicles using driving behavior-enabled graph spectrums: A naturalistic driving study in China
Published 2025-02-01“…However, current researches on ecological driving behavior mostly use structured data to reflect the characteristics of ecological driving behavior, and it is difficult to accurately reveal the recessive relationship between driving behavior and energy consumption. …”
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605
Diplomacia científica aplicada a la economía - Scientific diplomacy applied to economics
Published 2025-01-01“…This study explored the role of scientific diplomacy within the Ecuadorian economy, assessing how governments responded to an unprecedented crisis in the history of macroeconomic reactions to recessive and resource-constrained scenarios. Methodology: the research applied a mathematical framework to link scientific diplomacy with economic dynamics, combining qualitative and quantitative analyses with a comprehensive review of scientific data. …”
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606
Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA
Published 2025-02-01“…Abstract Background Pompe disease (PD) is an autosomal recessive lysosomal storage disorder caused by the deficient activity of acid alpha glucosidase (GAA) enzyme due to mutations in the GAA gene. …”
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607
Polymorphic variants of the genes for enzymes of the antioxidant system, apoptosis and inflammation as potential predictors of myocardial infarction
Published 2024-11-01“…The logistic regression analysis with various models demonstrated associations with MI of polymorphic variants of the genes CX3CR1 (rs3732378) (overdominant model – G/G + A/A vs A/G P = 0.0002, OR = 1.9), MSRA (rs10098474) (dominant model – T/T vs T/C + C/C P = 0.015, OR = 1.51), CCL2 (rs1024611) (recessive model – P = 0.0007 – A/A + A/G vs G/G OR = 2.63), BCL2 (rs12454712) (log-additive model – *C allele, P = 0.005, OR = 1.38). …”
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608
<i>ACE</i> I/D Genotype and Risk of Non-Contact Injury in Moroccan Elite Athletes: A Pilot Study
Published 2025-01-01“…II = OR: 1.17, 95% CI: 0.15–16.56, <i>p</i> = 0.89) nor the recessive (DD vs. ID + II = OR: 1.31, 95% CI: 1.31–4.89, <i>p</i> = 0.69) models showed an increased risk of non-contact injury. …”
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609
Le travail des peaux et du cuir durant le Haut-Empire à Bordeaux/Burdigala (Gironde), d’après les vestiges mis au jour sur le site de la rue Jean-Fleuret
Published 2024-12-01“…The use of lithic macro-tools and metal pins is also linked to the specific treatment of the hides of small ruminants, whether for finishing or to facilitate the impregnation of treatment products. A circular, recessed hearth may have been used to heat the room in which these activities took place, in this case acting as an oven to facilitate oil penetration during lubrication. …”
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610
Visual Environment Factors Influencing Staying Behaviors During Cycling on Countryside Greenways
Published 2025-02-01“…By expanding the width of select road sections and introducing cantilevered structures or recessed micro-terraces along them, the creation of small yet safe “pocket” staying spaces can provide cyclists with suitable rest areas without compromising the overall flow of traffic. …”
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