Works matching IS 14739542 AND DT 2024 AND VI 18 AND IP 1
Results: 129
Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00646-0
- By:
- Publication type:
- Article
A qualitative approach to assess the opinion of physicians about the challenges and prospects of pharmacogenomic testing implementation in clinical practice in Greece.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00648-y
- By:
- Publication type:
- Article
Genetic distance and ancestry proportion modify the association between maternal genetic risk score of type 2 diabetes and fetal growth.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00645-1
- By:
- Publication type:
- Article
Targeted panel sequencing of pharmacogenes and oncodrivers in colorectal cancer patients reveals genes with prognostic significance.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00644-2
- By:
- Publication type:
- Article
Identification of novel immune-related signatures for keloid diagnosis and treatment: insights from integrated bulk RNA-seq and scRNA-seq analysis.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00647-z
- By:
- Publication type:
- Article
Post-implantation analysis of genomic variations in the progeny from developing fetus to birth.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00634-4
- By:
- Publication type:
- Article
Pharmacogenetics in Italy: current landscape and future prospects.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00612-w
- By:
- Publication type:
- Article
An investigation of the molecular characterization of the tripartite motif (TRIM) family and primary validation of TRIM31 in gastric cancer.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00631-7
- By:
- Publication type:
- Article
An investigation of the molecular characterization of the tripartite motif (TRIM) family and primary validation of TRIM31 in gastric cancer.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00631-7
- By:
- Publication type:
- Article
Association of lipid-lowering drugs with risk of sarcopenia: a drug target mendelian randomization study and meta-analysis.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00643-3
- By:
- Publication type:
- Article
Unveiling the molecular landscape of cognitive aging: insights from polygenic risk scores, DNA methylation, and gene expression.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00640-6
- By:
- Publication type:
- Article
The cuproptosis-related signature predicts the prognosis and immune microenvironments of primary diffuse gliomas: a comprehensive analysis.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00636-2
- By:
- Publication type:
- Article
A novel variant in GAS2 is associated with autosomal dominant nonsyndromic hearing impairment in a Chinese family.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00628-2
- By:
- Publication type:
- Article
EU surveys insights: analytical tools, future directions, and the essential requirement for reference materials in wastewater monitoring of SARS-CoV-2, antimicrobial resistance and beyond.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00641-5
- By:
- Publication type:
- Article
Elucidating the role of liver enzymes as markers and regulators in ovarian cancer: a synergistic approach using Mendelian randomization, single-cell analysis, and clinical evidence.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00642-4
- By:
- Publication type:
- Article
Polygenic subtype identified in ACCORD trial displays a favorable type 2 diabetes phenotype in the UKBiobank population.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00639-z
- By:
- Publication type:
- Article
Systematic analysis of IGF2BP family members in non-small-cell lung cancer.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00632-6
- By:
- Publication type:
- Article
Bayesian-frequentist hybrid inference framework for single cell RNA-seq analyses.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00638-0
- By:
- Publication type:
- Article
Application of mendelian randomization in ocular diseases: a review.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00637-1
- By:
- Publication type:
- Article
Growth characteristics of HCT116 xenografts lacking asparagine synthetase vary according to sex.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00635-3
- By:
- Publication type:
- Article
Comprehensive bioinformatics analysis of human cytomegalovirus pathway genes in pan-cancer.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00633-5
- By:
- Publication type:
- Article
Next-generation sequencing profiling of miRNAs in individuals with 22q11.2 deletion syndrome revealed altered expression of miR-185-5p.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00625-5
- By:
- Publication type:
- Article
Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00623-7
- By:
- Publication type:
- Article
Shared genetic effect of kidney function on bipolar and major depressive disorders: a large-scale genome-wide cross-trait analysis.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00627-3
- By:
- Publication type:
- Article
Genetic analysis of 106 sporadic cases with hearing loss in the UAE population.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00630-8
- By:
- Publication type:
- Article
Deep learning-based pathway-centric approach to characterize recurrent hepatocellular carcinoma after liver transplantation.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00624-6
- By:
- Publication type:
- Article
Sperm epigenetics and male infertility: unraveling the molecular puzzle.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00626-4
- By:
- Publication type:
- Article
Mendelian randomization evidence based on European ancestry for the causal effects of leukocyte telomere length on prostate cancer.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00622-8
- By:
- Publication type:
- Article
Pan-cancer analysis of CDKN2A alterations identifies a subset of gastric cancer with a cold tumor immune microenvironment.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00615-7
- By:
- Publication type:
- Article
Assessment of nucleic acid extraction protocols for antibiotic resistance genes (ARGs) quantification in aircraft wastewater.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00617-5
- By:
- Publication type:
- Article
Evolutionary and functional analyses of LRP5 in archaic and extant modern humans.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00616-6
- By:
- Publication type:
- Article
Critical insights on "Association of the C allele of rs479200 in the EGLN1 gene with COVID‑19 severity in Indian population: a novel finding".
- Published in:
- 2024
- By:
- Publication type:
- Letter
Polygenic risk score predicting susceptibility and outcome of benign prostatic hyperplasia in the Han Chinese.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00619-3
- By:
- Publication type:
- Article
A genome-wide association study identifies candidate genes for sleep disturbances in depressed individuals.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00609-5
- By:
- Publication type:
- Article
An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00602-y
- By:
- Publication type:
- Article
Simultaneous detection of influenza A, B and respiratory syncytial virus in wastewater samples by one-step multiplex RT-ddPCR assay.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00614-8
- By:
- Publication type:
- Article
Meta-analysis of genomic variants in power and endurance sports to decode the impact of genomics on athletic performance and success.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00621-9
- By:
- Publication type:
- Article
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00613-9
- By:
- Publication type:
- Article
Meta-analysis of the global distribution of clinically relevant CYP2C8 alleles and their inferred functional consequences.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00610-y
- By:
- Publication type:
- Article
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00604-w
- By:
- Publication type:
- Article
GEN1 as a risk factor for human congenital anomalies of the kidney and urinary tract.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00606-8
- By:
- Publication type:
- Article
Mendelian randomization and colocalization analysis reveal novel drug targets for myasthenia gravis.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00607-7
- By:
- Publication type:
- Article
Prioritization of therapeutic targets for cancers using integrative multi-omics analysis.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00571-2
- By:
- Publication type:
- Article
Epidemiologic association and shared genetic architecture between cataract and hearing difficulties among middle-aged and older adults.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00601-z
- By:
- Publication type:
- Article
The causal associations of circulating lipids with Barrett's Esophagus and Esophageal Cancer: a bi-directional, two sample mendelian randomization analysis.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00608-6
- By:
- Publication type:
- Article
FiTMuSiC: leveraging structural and (co)evolutionary data for protein fitness prediction.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00605-9
- By:
- Publication type:
- Article
Altered skin microbiome, inflammation, and JAK/STAT signaling in Southeast Asian ichthyosis patients.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00603-x
- By:
- Publication type:
- Article
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00598-5
- By:
- Publication type:
- Article
Profiling the role of m6A effectors in the regulation of pluripotent reprogramming.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00597-6
- By:
- Publication type:
- Article
Prioritizing susceptibility genes for the prognosis of male-pattern baldness with transcriptome-wide association study.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00591-y
- By:
- Publication type:
- Article