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Biochemical characteristics, genetic variants and treatment outcomes of 55 Chinese cases with neonatal intrahepatic cholestasis caused by citrin deficiency
Published 2025-01-01“…We aim to investigate the biochemical characteristics, genetic variants, and treatment outcome of NICCD patients.MethodsWe compared the nutritional status and biochemical characteristics of 55 NICCD infants and 27 idiopathic neonatal cholestasis (INC) infants. …”
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Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses
Published 2025-02-01Subjects: Get full text
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1764
Applying genetic algorithm to extreme learning machine in prediction of tumbler index with principal component analysis for iron ore sintering
Published 2025-02-01Subjects: “…Genetic algorithm…”
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Genetic Variants Flanking the FGF21 Gene Were Associated with Renal Function in Chinese Patients with Type 2 Diabetes
Published 2019-01-01“…However, the relationship between genetic variants in the FGF21 gene region and DKD remains unknown. …”
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Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases: The Current Picture and a Look to the Future
Published 2025-01-01“…Proteomics accelerates diagnosis and research of muscular diseases by enabling the robust analysis of proteins relevant for the manifestation of neuromuscular diseases in the following aspects: (i) evaluation of the effect of genetic variants on the corresponding protein, (ii) prediction of the underlying genetic defect based on the proteomic signature of muscle biopsies, (iii) analysis of pathophysiologies underlying different entities of muscular diseases, key for the definition of new intervention concepts, and (iv) patient stratification according to biochemical fingerprints as well as (v) monitoring the success of therapeutic interventions. …”
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Genetic differentiation and historical dynamics of the endemic species Rheum pumilum on the Qinghai-Tibetan Plateau inferred from phylogeography implications
Published 2025-02-01“…Results The examination of 39 haplotypes across 26 populations of Rh. pumilum reveals distinct regional distribution, reflecting a phylogeographic pattern resembling “alpine-island”. The total genetic diversity of Rh. pumilum is remarkably high (Ht = 0.910), with the majority of genetic variation primarily occurred among populations (84.5%) with limited gene flow, indicating geographic isolation influenced by diverse habitats of plateau. …”
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Impact of blastocyst biopsy for preimplantation genetic testing on maternal and neonatal outcomes following single frozen embryo transfer cycles
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Integrative analyses of mendelian randomization and bioinformatics reveal casual relationship and genetic links between COVID-19 and knee osteoarthritis
Published 2025-01-01“…Conclusions This study uniquely combines Mendelian randomization and bioinformatics tools to explore the possibility of a causal relationship and genetic association between COVID-19 and KOA. These findings are expected to provide novel perspectives on the underlying biological mechanisms that link COVID-19 and KOA.…”
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Matrix Gla Protein and Nitric Oxide Synthase-3 Genetic Variants in Chronic Kidney Disease and Their Relation with Cardiovascular Risk
Published 2024-01-01“…Conclusion. We conclude that genetic variants of MGP and NOS3 enhance the risk of CKD and its associated cardiovascular comorbidity in South Indian Tamils.…”
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The breast cancer genetic testing experience: probing the potential utility of an online decision aid in risk perception and decision making
Published 2025-01-01Subjects: “…Genetic testing…”
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Safety evaluation of an extension of use of the food enzyme glucose oxidase from the genetically modified Aspergillus niger strain ZGL
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Concordant Signal of Genetic Variation Across Marker Densities in the Desert Annual Chylismia brevipes Is Linked With Timing of Winter Precipitation
Published 2024-12-01“…Overall, we found that the datasets consistently characterized both neutral population structure and genetic–environmental associations. Ancestry analyses indicated consistent spatial genetic structuring into four regional populations. …”
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Genetic Transformability of Selected Kenyan Groundnut (Arachis hypogaea L.) Genotypes with IPT Gene Using Cotyledonary Node Explants
Published 2022-01-01“…This work reports the genetic transformability of Kenyan groundnut (Arachis hypogaea L.) genotypes with isopentenyl transferase (IPT) gene towards drought tolerance. …”
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Unraveling relationship between the genetic polymorphism CYP2A13 and nicotine metabolism of male smokers in Medan, Indonesia
Published 2025-02-01“…Egyptian Journal of Medical Human Genetics…”
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Genetic Tendency Analysis and Comprehensive Antioxidant Activity Evaluation of Leaves and Flowers of Loquat F<sub>1</sub> Generation
Published 2025-01-01“…These results suggest that hybrid breeding guided by the genetic characteristics of each trait can improve the possibility of cultivating new varieties with high antioxidant activity.…”
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Genetic variability studies of diverse cashew (Anacardium occidentale L.) cultivars for growth and yield parameters in coastal zone of Karnataka
Published 2024-12-01“…This study provides useful information on genetic control of important yield traits and choice of potential cultivars in hybridization program to explore the variability and hybrid vigor for improvement of productivity and quality in cashew. …”
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Results of studying wheatgrass (<i>Agropyron</i> Gaertn.) accessions from the VIR global genetic resources collection in Yakutia
Published 2021-04-01“…The use of different wheatgrass species as a crop for arid conditions is quite profoundly studied in the USA, Canada, Russia, and Kazakhstan. Genetic and breeding studies are underway in different countries. …”
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