Volume 17, issue 1, December 2024
231 articles in this issue
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Identification of autophagy-related genes as potential biomarkers correlated with immune infiltration in bipolar disorder: a bioinformatics analysis
Authors (first, second and last of 7)
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Whole exome sequencing analysis of 167 men with primary infertility
Authors (first, second and last of 6)
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Transcriptomic analysis reveals key molecular signatures across recovery phases of hemorrhagic fever with renal syndrome
Authors (first, second and last of 8)
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Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases
Authors (first, second and last of 5)
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Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly
Authors (first, second and last of 10)
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Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy
Authors (first, second and last of 8)
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A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families
Authors (first, second and last of 9)
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Prenatal diagnosis of recurrent Kagami–Ogata syndrome inherited from a mother affected by Temple syndrome: a case report and literature review
Authors (first, second and last of 7)
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lncRNA TUG1 transcript levels and psychological disorders: insights into interplay of glycemic index and glycemic load
Authors (first, second and last of 5)
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Identification of key immune-related genes and potential therapeutic drugs in diabetic nephropathy based on machine learning algorithms
Authors (first, second and last of 4)
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NQO1 polymorphism and susceptibility to ischemic stroke in a Chinese population
Authors (first, second and last of 7)
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Integrated bioinformatics analysis and experimental validation reveal the relationship between ALOX5AP and the prognosis and immune microenvironment in glioma
Authors (first, second and last of 4)
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The role of NOS3-rs1799983 and NOS3- rs2070744 SNP in occurrence of avascular necrosis as a post COVID-19 complication
Authors (first, second and last of 4)
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The causal effect of gut microbiota on hepatic encephalopathy: a mendelian randomization analysis
Authors (first, second and last of 10)
This is part of 2 collections:
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Case report: response to immunotherapy and association with the fh gene in hereditary leiomyomatosis and renal cell cancer-associated renal cell cancer
Authors (first, second and last of 8)
This is part of 2 collections:
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Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology
Authors (first, second and last of 9)
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Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation – a case report
Authors (first, second and last of 6)
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Revealing differential expression patterns of piRNA in FACS blood cells of SARS-CoV−2 infected patients
Authors (first, second and last of 12)
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Genomic characterization of methicillin-resistant Staphylococcus aureus isolated from patients attending regional referral hospitals in Tanzania
Authors (first, second and last of 12)
This is part of 2 collections:
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Exploring the clinical and biological significance of the cell cycle-related gene CHMP4C in prostate cancer
Authors (first, second and last of 9)
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Major depletion of insulin sensitivity-associated taxa in the gut microbiome of persons living with HIV controlled by antiretroviral drugs
Authors (first, second and last of 18)
This is part of 2 collections:
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Exploring the prognostic landscape of oral squamous cell carcinoma through mitochondrial damage-related genes
Authors (first, second and last of 4)
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Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases
Authors (first, second and last of 7)
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A novel variant in the SPTB gene underlying hereditary spherocytosis and a literature review of previous variants
Authors (first, second and last of 9)
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Transcriptome analysis of the diseased intervertebral disc tissue in patients with spinal tuberculosis
Authors (first, second and last of 10)
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Leisure television watching exerts a causal effect on gastroesophageal reflux disease: evidence from a two-step mendelian randomization study
Authors (first, second and last of 4)
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Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants
Authors (first, second and last of 11)
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Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing
Authors (first, second and last of 16)
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Correction: Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders
Authors (first, second and last of 7)
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Genetic evidence for predisposition to acute leukemias due to a missense mutation (p.Ser518Arg) in ZAP70 kinase: a case-control study
Authors (first, second and last of 7)
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Biomarkers related to m6A and succinic acid metabolism in papillary thyroid carcinoma
Authors (first, second and last of 4)
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Identification and analysis of key genes related to efferocytosis in colorectal cancer
Authors (first, second and last of 8)
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FLT4 gene polymorphisms influence isolated ventricular septal defect predisposition in a Southwest China population
Authors (first, second and last of 11)
This is part of 2 collections:
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Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism
Authors (first, second and last of 16)
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Consider CUX1 variants in children with a variation of sex development: a case report and review of the literature
Authors (first, second and last of 5)
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Analysis of different expression RNA binding protein genes in mouse microglia cell from the brains of mice 72 h after subarachnoid hemorrhage or sham operation
Authors (first, second and last of 5)
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Causal effect of the age at first birth with depression: a mendelian randomization study
Authors (first, second and last of 9)
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Clinical efficacy of thalidomide for various genotypes of beta thalassemia
Authors (first, second and last of 8)
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Towards genomic medicine: a tailored next-generation sequencing panel for hydroxyurea pharmacogenomics in Tanzania
Authors (first, second and last of 18)
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A novel splice-altering TNC variant (c.5247A > T, p.Gly1749Gly) in an Chinese family with autosomal dominant non-syndromic hearing loss
Authors (first, second and last of 4)
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Macrothrombocytopenia with leukocyte inclusions in a patient with Wilson disease: a case report and literature review
Authors (first, second and last of 7)
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MYO5B gene mutations may promote the occurrence of very early onset inflammatory bowel disease: a case report
Authors (first, second and last of 6)
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Co-expression in tissue-specific gene networks links genes in cancer-susceptibility loci to known somatic driver genes
Authors (first, second and last of 12)
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A systematic strategy for identifying causal single nucleotide polymorphisms and their target genes on Juvenile arthritis risk haplotypes
Authors (first, second and last of 7)
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Mendelian randomization analysis reveals higher whole body water mass may increase risk of bacterial infections
Authors (first, second and last of 4)
