Works matching IS 17558794 AND DT 2024 AND VI 17 AND IP 1
Results: 282
Genetic analysis of partial duplication of the long arm of chromosome 16.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02059-3
- By:
- Publication type:
- Article
CLOCK gene 3'UTR and exon 9 polymorphisms show a strong association with essential hypertension in a North Indian population.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02056-6
- By:
- Publication type:
- Article
Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02027-x
- By:
- Publication type:
- Article
Correction: Hearing impairment and vestibular function in patients with a pathogenic splice variant in the LHX3 gene.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Correlation between rs7041 and rs4588 polymorphisms in vitamin D binding protein gene and COVID-19-related severity and mortality.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02018-y
- By:
- Publication type:
- Article
Effects of different temperatures on chondrocyte growth: a transcriptomic analysis.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02070-8
- By:
- Publication type:
- Article
THBS1 is a new autosomal recessive non-syndromic hearing impairment gene.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02060-w
- By:
- Publication type:
- Article
Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02065-5
- By:
- Publication type:
- Article
Associations between (pharmaco-)genetic markers and postoperative pain after inguinal hernia repair – a prospective study protocol.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02064-6
- By:
- Publication type:
- Article
Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02063-7
- By:
- Publication type:
- Article
The association between vitamin D receptor gene polymorphism FokI and type 2 diabetic kidney disease and its molecular mechanism: a case control study.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02061-9
- By:
- Publication type:
- Article
A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02055-7
- By:
- Publication type:
- Article
Proteomic analysis illustrates the potential involvement of dysregulated ribosome-related pathways and disrupted metabolism during retinoic acid-induced cleft palate development.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02054-8
- By:
- Publication type:
- Article
Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia was revealed by miscarriage—novel compound heterozygous mutations in hTTP.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02051-x
- By:
- Publication type:
- Article
ASXL1 truncating variants in BOS and myeloid leukemia drive shared disruption of Wnt-signaling pathways but have differential isoform usage of RUNX3.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02039-7
- By:
- Publication type:
- Article
Genome-wide association analysis of cystatin c and creatinine kidney function in Chinese women.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02048-6
- By:
- Publication type:
- Article
Elevated expression of APOO as a potential prognostic marker in breast cancer: insights from bioinformatic analysis and experimental validation.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02047-7
- By:
- Publication type:
- Article
Sex differences in MAGEL2 gene promoter methylation in high functioning autism - trends from a pilot study using nanopore Cas9 targeted long read sequencing.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02053-9
- By:
- Publication type:
- Article
Development of a clinical metagenomics workflow for the diagnosis of wound infections.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02044-w
- By:
- Publication type:
- Article
Genomic profiling and expanded use of targeted anticancer drugs in solid cancers with exhausted evidence-based treatment options (PRECODE): study protocol of a prospective, non-randomized, cohort study.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02033-z
- By:
- Publication type:
- Article
Private detection of relatives in forensic genomics using homomorphic encryption.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02037-9
- By:
- Publication type:
- Article
Protein-losing enteropathy with congenital kidney stones in a 2-month-old boy: a rare case report and literature review.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Construction of an immunogenic cell death-related LncRNA signature to predict the prognosis of patients with lung adenocarcinoma.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02042-y
- By:
- Publication type:
- Article
Hearing impairment and vestibular function in patients with a pathogenic splice variant in the LHX3 gene.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02049-5
- By:
- Publication type:
- Article
Association between miR-30 polymorphism and ischemic stroke in Chinese population.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02041-z
- By:
- Publication type:
- Article
Correction: Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
A systematic review and meta-analysis of carbapenem-resistant Enterobacteriaceae in West Africa.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02043-x
- By:
- Publication type:
- Article
Comparative meta-analysis of transcriptomic studies in spinal muscular atrophy: comparison between tissues and mouse models.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02040-0
- By:
- Publication type:
- Article
Overexpression of CDCA8 predicts poor prognosis and drug insensitivity in lung adenocarcinoma.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02019-x
- By:
- Publication type:
- Article
Co-regulated ceRNA network mediated by circRNA and lncRNA in patients with gouty arthritis.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02038-8
- By:
- Publication type:
- Article
SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02026-y
- By:
- Publication type:
- Article
A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02036-w
- By:
- Publication type:
- Article
Analysis of clinical phenotypes and genetic variations in two pedigrees affected with Weiss–Kruszka syndrome.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02035-x
- By:
- Publication type:
- Article
The signature of SARS-CoV-2-related genes predicts the immune therapeutic response and prognosis in breast cancer.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02032-0
- By:
- Publication type:
- Article
Association between venous thromboembolism and atrial fibrillation: a Mendelian randomization study.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02034-y
- By:
- Publication type:
- Article
New insight into the development of synpolydactyly caused by expansion of HOXD13 polyalanine based on weighted gene co-expression network analysis.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01974-9
- By:
- Publication type:
- Article
The Toll-like receptor 4 antagonist TAK-242 in combination with sodium hyaluronate alleviates postoperative abdominal adhesion in a mouse model.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02031-1
- By:
- Publication type:
- Article
RNA-seq validation of microRNA expression signatures for precision melanoma diagnosis and prognostic stratification.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02028-w
- By:
- Publication type:
- Article
Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02024-0
- By:
- Publication type:
- Article
A novel frameshift deletion variant of ARSL associated with X-linked recessive chondrodysplasia punctata 1: a case report and literature review of prenatal, confirmed cases.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02029-9
- By:
- Publication type:
- Article
Identification of a novel FGF3 variant and a new phenotype in three LAMM syndrome families.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02023-1
- By:
- Publication type:
- Article
Retraction Note: A novel necroptosis signature for predicting survival in lung adenocarcinoma.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Torsades de Pointes electrical storm in children with KCNH2 mutations.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Transcriptome-wide N6-methyladenosine modification profiling of long non-coding RNAs in patients with recurrent implantation failure.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02013-3
- By:
- Publication type:
- Article
Diverse phenotypes and fertility outcomes of patients with androgen insensitivity syndrome in a Chinese family harboring identical AR gene variant.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01990-9
- By:
- Publication type:
- Article
Lipid-lowering drugs and risk of rapid renal function decline: a mendelian randomization study.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02020-4
- By:
- Publication type:
- Article
Nanopore-based full-length transcriptome sequencing for understanding the underlying molecular mechanisms of rapid and slow progression of diabetes nephropathy.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02006-2
- By:
- Publication type:
- Article
Serum lncRNA ITGB2-AS1 and ICAM-1 as novel biomarkers for rheumatoid arthritis and osteoarthritis diagnosis.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01993-6
- By:
- Publication type:
- Article
Fabry disease in female monozygotic twins with complex intronic haplotype variants: a case report.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02021-3
- By:
- Publication type:
- Article
Fragmentomics of plasma mitochondrial and nuclear DNA inform prognosis in COVID-19 patients with critical symptoms.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02022-2
- By:
- Publication type:
- Article