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Mitochondrial diseases: from molecular mechanisms to therapeutic advances
Published 2025-01-01“…Mitochondrial diseases, a common group of genetic disorders, are characterized by significant phenotypic and genetic heterogeneity. …”
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7364
Evaluating vitamin C-related gene-environment and metabolite-environment interaction effects on intraocular pressure in the Canadian Longitudinal Study on Aging
Published 2025-01-01“…Abstract High intraocular pressure (IOP) is an important risk factor for glaucoma, which is influenced by genetic and environmental factors. However, the etiology of high IOP remains uncertain. …”
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7365
Purine metabolites regulate leukemic cell sensitivity toward cytarabine
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7366
Hereditary breast cancer risk gene assessment and counseling: interpretation of NCCN guidelines and Ruijin Hospital clinical practice
Published 2024-09-01“…In this regard, the National Comprehensive Cancer Network (NCCN) Clinical Practice Guidelines in Genetic/Familial High-Risk Assessment was developed to guide genetic assessment and counseling in mutation carriers of breast cancer risk genes, providing crucial information for the prevention, screening and treatment of breast cancer. …”
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Comparative evaluation of four exome enrichment solutions in 2024: Agilent, Roche, Vazyme and Nanodigmbio
Published 2025-01-01“…Abstract Whole exome sequencing (WES) is essential for identifying genetic variants linked to diseases. This study compares available to date four exome enrichment kits: Agilent SureSelect Human All Exon v8, Roche KAPA HyperExome, Vazyme VAHTS Target Capture Core Exome Panel, and Nanodigmbio NEXome Plus Panel v1. …”
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Assessment of oat varieties with different levels of breeding refinement from the Vavilov Institute’s collection applying the method of metabolomic profiling
Published 2022-04-01“…Vavilov Institute of Plant Genetic resources (VIR) served as the material for the research. …”
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A LOW-COST METHOD FOR THE DETECTION OF DUPLICATE HOLDINGS AMONG GENEBANK ACCESSIONS
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LOCAL BARLEY ACCESSIONS FROM ETHIOPIA RESISTANT TO POWDERY MILDEW
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Occurrence and Determination of Antimicrobial Resistant Escherichia coli Isolates in Fish and Vegetables as Indicator Organism of Faecal Contamination in Dar es Salaam, Tanzania
Published 2021-01-01“…ERIC-PCR profiles of E. coli isolates from manure, vegetables, and fish showed genetic diversity with genetic relatedness ranging from 74.5% to 100%. …”
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Infantile epileptic spasms syndrome: an etiologic study of 361 patients with infantile epileptic spasms syndrome
Published 2025-01-01“…The genetic classifications exhibit geographic variability. …”
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VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review
Published 2024-12-01“…Results We present two related patients from Kosovo, describing the clinical, genetic, and therapeutic aspects of the syndrome. …”
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Role of autophagy defects and significance of adherent-invasive <i>Escherichia coli</i> in Crohn's disease development
Published 2015-07-01“…According to modern concept, etiology of CD has complex nature and is determined by genetic predisposition, infectious agents and environmental factors. …”
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A calf with ectrodactyly and micromelia: a case report
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INTENSITY OF GROWTH AND DEVELOPMENT OF FLAX LINES WITH DIFFERENT PHOTOSENSITIVITY IN THE LATITUDES TRADITIONAL FOR FLAX AND LINSEED
Published 2018-06-01“…Thirty-five lines from the flax genetic collection held at VIR, differing in origin and photosensitivity, have been evaluated in natural conditions of fibre flax (60°nl) and linseed (53°nl) cultivation, and in artificially created long- and short-day conditions for the duration of phases “germination-flowering”, “flowering-maturation” and plants height. …”
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Identification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC)
Published 2025-01-01“…This study aimed to identify the genetic etiologies of AMC patients and provide genetic testing information for further diagnosis and treatment of AMC. …”
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The Causal Relationship between Immune-Mediated Inflammatory Diseases and Aortic Aneurysm: A Bidirectional Two-Sample Mendelian Randomization Study
Published 2024-01-01“…Our findings shed light on the causal effects between genetically predisposed AA and RA. They also suggest the potential clinical utility of human leukocyte antigen (HLA) risk genetic markers for developing personalized treatment and prevention strategies.…”
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