Keywords: تنوع نوکلئوتید تک; ANGPTL4; angiopoietin-like 4; CDX; CTC-derived xenograft; CK; cytokeratin; CNA; copy number alteration; CTC; circulating tumor cell; DAXX; death-associated protein 6; EMT; epithelial-mesenchymal transition; EpCAM; epithelial adhesion molecules; INDEL; ins
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Keywords: تنوع نوکلئوتید تک; CECMP; cytoskeletal and extra-cellular matrix protein; DFS; disease-free survival; ECM; extra-cellular matrix; GDC; genome data commons; OS; overall survival; SNP; single nucleotide polymorphism; SNV; single nucleotide variation; SPSS; statistical package
Keywords: تنوع نوکلئوتید تک; chronic pancreatitis; acute recurrent pancreatitis; PRSS1; SPINK1; CFTR; next-generation sequencing; ATP8B1; ATPase type 8B member 1; CASR; Calcium-sensing receptor; CFTR; Cystic fibrosis transmembrane conductance regulator gene; CLDN2; CLAUDIN 2; CP; Chr
Keywords: تنوع نوکلئوتید تک; TLR1; Unrelated donor; Bone marrow transplantation; Single nucleotide variation;
Keywords: تنوع نوکلئوتید تک; RP; retinitis pigmentosa; WES; whole-exome sequencing; USH1; Usher type 1; USH2; Usher type 2; USH3; Usher type 3; USH2A; Usher type 2A; VEP; visual evoked potential; ERG; electroretinogram; DNA; deoxyribonucleic acid; GATK; Genome Analysis Toolkit; SNSs;
Keywords: تنوع نوکلئوتید تک; CRC; colorectal cancer; NGS; Next Generation Sequencing; SNV; single nucleotide variation; indel; insertion or deletion; CNA; copy number aberration; SV; structural variation; MAF; mutant allele frequency; TCF; tumor cell fraction; MSS; microsatellite sta
Keywords: تنوع نوکلئوتید تک; LOH; loss of heterozygosity; NGS; next-generation sequencing; SNP-RFLP; single nucleotide polymorphism-restriction fragment length polymorphism; INDEL; INsertion/DELetion; CAHCA; Comparative Allele Haplotyping for C. albicans; RDmean; mean depth of reads;
Keywords: تنوع نوکلئوتید تک; DBSS; dried blood spot samples; gDNA; genomic DNA; wgaDNA; whole-genome amplified DNA; DNSB; Danish Newborn Screening Biobank; NGS; next generation sequencing; WGS; whole-genome sequencing; WES; whole exome sequencing; SNV; single nucleotide variation; SN
A Quantitative Evaluation of MIRU-VNTR Typing Against Whole-Genome Sequencing for Identifying Mycobacterium tuberculosis Transmission: A Prospective Observational Cohort Study
Keywords: تنوع نوکلئوتید تک; Mycobacterium tuberculosis; MIRU-VNTR; Single nucleotide variation; Outbreak investigation; Molecular epidemiology; Research in context;
Mutational Intratumor Heterogeneity is a Complex and Early Event in the Development of Adult T-cell Leukemia/Lymphoma
Keywords: تنوع نوکلئوتید تک; ATL; Adult T-cell Leukemia/Lymphoma; HTLV-1; Human T-cell Leukemia Virus Type-1; PVL; Proviral Load; NGS; Next Generation Sequencing Technology; WES; Whole Exome Sequencing; SNV; Single Nucleotide Variation; CNA; Copy Number Alteration; VAF; Variant Allel
Genetic variations in the DNA replication origins of human papillomavirus family correlate with their oncogenic potential
Keywords: تنوع نوکلئوتید تک; HPV; human papillomavirus; BS1; E2 binding site 1; BS2; E2 binding site 2; BS3; E2 binding site 3; BS4; E2 binding site 4; C1; complex 1; C2; complex 2; C3; complex 3; EMSA; electrophoretic mobility shift assay; KD; dissociation constant; SNV; single nucl
The recipient CCR5 variation predicts survival outcomes after bone marrow transplantation
Keywords: تنوع نوکلئوتید تک; CCR5; Unrelated donor; Bone marrow transplantation; Single nucleotide variation; Graft-versus-host disease;
Research PaperA droplet-based microfluidic platform for kinetics-based detection of single nucleotide variation at room temperature with large discrimination factors
Keywords: تنوع نوکلئوتید تک; Droplet microfluidics; Flow stopping; Polymerase kinetics; Single nucleotide variation;
Aging-associated mitochondrial DNA mutations alter oxidative phosphorylation machinery and cause mitochondrial dysfunctions
Keywords: تنوع نوکلئوتید تک; BN-PAGE; blue-native polyacrylamide gel electrophoresis; CSB; conserved sequence blocks; CRS; cambridge reference sequence; c; random coil; CI; Complex I; CIII; complex III; CV; complex V; DMEM; dulbecco's modified eagle medium; e; extended strand; FBS; f
Sporadic Early-Onset Diffuse Gastric Cancers Have High Frequency of Somatic CDH1 Alterations, but Low Frequency of Somatic RHOA Mutations Compared With Late-Onset Cancers
Keywords: تنوع نوکلئوتید تک; Young; Stomach; Age; Genomic; CIN; chromosomal instability; DGC; diffuse gastric cancer; EBV; Epstein-Barr virus; EO; early onset; GC; gastric cancer; GS; genomically stable; HR; hazard ratio; LO; late onset; MSI; microsatellite instability; SNV; single n
Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance
Keywords: تنوع نوکلئوتید تک; ACMG; American College of Medical Genetics and Genomics; ADI-R; Autism Diagnostic Interview-Revised; ADOS; Autism Diagnostic Observation Schedule; ANK; ankyrin repeat; ASD; autism spectrum disorder; BDNF; brain derived neurotrophic factor; BWA; Burrows-Wh
Current trend of annotating single nucleotide variation in humans – A case study on SNVrap
Keywords: تنوع نوکلئوتید تک; Single nucleotide variation; Next generation sequencing; Functional annotation; Functional prediction; Web server
Two rare variations, D478N and D478E, that occur at the same amino acid residue in nicotinic acetylcholine receptor (nAChR) α2 subunit influence nAChR function
Keywords: تنوع نوکلئوتید تک; Nicotinic acetylcholine receptor; Single nucleotide variation; Missense mutation; Receptor structure-function; Electrophysiology; ACh; acetylcholine; nAChRs; nicotinic acetylcholine receptors; Imax; peak current response; SNP; single nucleotide polymorp
Analysis of the inheritance pattern of a Chinese family with phaeochromocytomas through whole exome sequencing
Keywords: تنوع نوکلئوتید تک; CT; Computed Tomography; CTA; Computed Tomography Angiography; FDR; False Discovery Rate; GO; Gene Ontology; Indel; Insertion-Deletion; LOD; Logarithm of Odds; MEN2; Multiple Endocrine Neoplasia Type 2; MN; Metanephrine; NF1; Neurofibromatosis Type 1; N
Recipient PTPN22 −1123 C/C Genotype Predicts Acute Graft-versus-Host Disease after HLA Fully Matched Unrelated Bone Marrow Transplantation for Hematologic Malignancies
Keywords: تنوع نوکلئوتید تک; Unrelated donor; Single nucleotide variation; Lymphoid specific phosphatase; rs2488457; Promoter gene variant
The recipient CXCL10 + 1642C>G variation predicts survival outcomes after HLA fully matched unrelated bone marrow transplantation
Keywords: تنوع نوکلئوتید تک; CXCL10;; Chemokine;; Unrelated donor;; Bone marrow transplantation;; Single nucleotide variation;; Organ failure
Mating type idiomorphs from a French population of the wheat pathogen Mycosphaerella graminicola: widespread equal distribution and low but distinct levels of molecular polymorphism
Keywords: تنوع نوکلئوتید تک; Mating type distribution; Mating type genes; PCR–RFLP–SSCP; Septoria tritici; Sexual reproduction; Single nucleotide variation
Differentiation between vaccine and wild-type varicella-zoster virus genotypes by high-resolution melt analysis of single nucleotide polymorphisms
Keywords: تنوع نوکلئوتید تک; Varicella-zoster virus; High-resolution melt analysis; Single nucleotide variation; Genotype; V-Oka