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Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes
Published 2024-08-01“…Therefore, comprehensive genetic testing is useful for identifying the genes responsible for ARCAs. We identified two novel pathogenic variants of the SQSTM1 and SYNE1 genes via whole-exome sequencing in patients with ARCAs.…”
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Formation Mechanism of Preferential Flow Paths and Seepage Characteristics of a Novel Growable Pile for Heap Leaching of Rare Earth
Published 2021-01-01“…In order to solve this trouble, a novel pile structure into which leaching liquid is laterally injected is proposed for heap leaching of rare earth. …”
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A novel imatinib analogue inhibitor of chronic myeloid leukaemia: design, synthesis and characterization—explanation of its folded conformation
Published 2025-01-01“…This study presents the synthesis and characterization of a novel imatinib analogue, 3-chloro-N-(2-methyl-5-((4-(pyridin-2-yl)pyrimidin-2-yl)amino)phenyl)benzamide (PAPP1). …”
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Lepra lepromatosa y miasis cutánea forunculosa. Presentación de un caso
Published 2012-11-01Get full text
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Privacy virtualisation as an element of the new gender order
Published 2022-09-01Subjects: Get full text
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Identifying the function of novel cross-species microRNAs from the excretory-secretory products of Angiostrongylus cantonensis fifth-stage larvae
Published 2025-02-01Subjects: Get full text
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Crude Oil Foulant Deposition Studies on a Heated Surface Using a Novel Batch Stirred Coupon Test Rig
Published 2022-01-01Get full text
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Uric Acid to High-Density Lipoprotein Cholesterol Ratio is a Novel Marker to Predict Functionally Significant Coronary Artery Stenosis
Published 2022-01-01“…UHR levels were significantly increased in patients with hemodynamically significant coronary lesions. UHR is a novel predictor of functionally significant lesions in patients with a single-vessel disease of ICS.…”
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A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants
Published 2024-01-01“…These findings confirm the novel variant as pathogenic.…”
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The association of lipids and novel non-statin lipid-lowering drug target with osteoporosis: evidence from genetic correlations and Mendelian randomization
Published 2025-02-01“…This study aimed to investigate the genetic associations between lipids, novel non-statin lipid-lowering drug target genes, and OP and BMD. …”
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