Works matching IS 17558794 AND DT 2023
Results: 343
Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01780-9
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- Article
Mutations in PGRN gene associated with the risk of psoriasis in Pakistan: a case control study.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01757-8
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Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01767-6
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Comparing variants related to chronic diseases from genome-wide association study (GWAS) and the cancer genome atlas (TCGA).
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01758-7
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- Article
A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalities.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01778-3
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Construction of 11 metabolic-related lncRNAs to predict the prognosis in lung adenocarcinoma.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01764-9
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An FGFR2 mutation as the potential cause of a new phenotype including early-onset osteoporosis and bone fractures: a case report.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01750-1
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Association of lncRNA THRIL, HOTAIR genes variations and expression levels with pulmonary tuberculosis.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01770-x
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Unveiling the role of miR-137-3p/miR-296-5p/SERPINA3 signaling in colorectal cancer progression: integrative analysis of gene expression profiles and in vitro studies.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01763-w
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Genetic study of the causal effect of lipid profiles on insomnia risk: a Mendelian randomization trial.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01761-y
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BMC3PM: bioinformatics multidrug combination protocol for personalized precision medicine and its application in cancer treatment.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01745-y
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A novel 268 kb deletion combined with a splicing variant in IL7R causes of severe combined immunodeficiency in a Chinese family: a case report.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01765-8
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Y chromosome AZFc microdeletion may have negative effect on embryo euploidy: a retrospective cohort study.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01760-z
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- Article
Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01766-7
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A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01759-6
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Vitamin D receptor rs3782905 and vitamin D binding protein rs7041 polymorphisms are associated with hepatocellular carcinoma susceptibility in cirrhotic HCV patients.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01749-8
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CYP4V2 rs56413992 C > T was associated with the risk of coronary heart disease in the Chinese Han population: a case–control study.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01737-y
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Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01753-y
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Causal associations between liver traits and Colorectal cancer: a Mendelian randomization study.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01755-w
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Prognosis prediction based on methionine metabolism genes signature in gliomas.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01754-x
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Key m<sup>6</sup>A regulators mediated methylation modification pattern and immune infiltration characterization in hepatic ischemia-reperfusion injury.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01751-0
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A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01716-3
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Prenatal diagnosis of 1408 foetuses at risk of DMD/BMD by MLPA and Sanger sequencing combined with STR linkage analysis.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01746-x
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Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01743-0
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Identifying potential pathogenesis and immune infiltration in diabetic foot ulcers using bioinformatics and in vitro analyses.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01741-2
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Integrated analysis of microRNA and mRNA expression profiles in Preeclampsia.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01740-3
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Identification of differentially expressed genes associated with the pathogenesis of gastric cancer by bioinformatics analysis.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01720-7
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Specific expression profile of follicular fluid-derived exosomal microRNAs in patients with diminished ovarian reserve.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01756-9
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An association between ATP7B expression and human cancer prognosis and immunotherapy: a pan-cancer perspective.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01714-5
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Evaluation of causal associations between interleukin-18 levels and immune-mediated inflammatory diseases: a Mendelian randomization study.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01744-z
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A novel necroptosis signature for predicting survival in lung adenocarcinoma.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01748-9
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- Article
Screening of key genes in the pathogenesis of muscle atrophy in CKD-PEW children based on RNA sequencing.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01718-1
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Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01747-w
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Correction: Polygenic risk for triglyceride levels in the presence of a high impact rare variant.
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- 2023
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- Correction Notice
Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01739-w
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Integrated single-cell and bulk RNA sequencing analysis identifies a neoadjuvant chemotherapy-related gene signature for predicting survival and therapy in breast cancer.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01727-0
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Identification of genetic variants in two families with Keratoconus.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01738-x
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Association of MMP3, MMP14, and MMP25 gene polymorphisms with cerebral stroke risk: a case-control study.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01734-1
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Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01733-2
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The diagnostic/prognostic roles and biological function of the IFIT family members in acute myeloid leukemia.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01735-0
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Balancing the interplay of histone deacetylases and non-coding genomes: a step closer to understand the landscape of cancer treatment.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01724-3
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Genetic profile of Chinese patients with small bowel cancer categorized by anatomic location.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01736-z
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Correction: Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.
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- 2023
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- Correction Notice
Identification of compound heterozygous deletion of the WWOX gene in WOREE syndrome.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01731-4
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Mutation spectrum, expression profiling, and prognosis evaluation of Fanconi anemia signaling pathway genes for 4259 patients with myelodysplastic syndromes or acute myeloid leukemia.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01730-5
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Perampanel effectiveness in treating ROGDI-related Kohlschütter-Tönz syndrome: first reported case in China and literature review.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01728-z
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Identification and validation of autophagy-related genes in primary open-angle glaucoma.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01722-5
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Proto-oncogene mutations in middle ear cholesteatoma contribute to its pathogenesis.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01640-6
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OGM and WES identifies translocation breakpoints in PKD1 gene in an polycystic kidney patient and healthy baby delivered using PGT.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01725-2
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A phenome-wide approach to identify causal risk factors for deep vein thrombosis.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01710-9
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- Article