Keywords: واژگانی; Anatomy; forearm; hand; muscle; variant;
مقالات ISI واژگانی (ترجمه نشده)
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Keywords: واژگانی; Single-cell; Clone; Clonal; Variant; Next generation sequencing;
Keywords: واژگانی; Colon Cancer; Cohort; Variant; Predisposition; AA; advanced adenoma; AN; advanced neoplasm; BLITZ; Begleitende Evaluierung innovativer Testverfahren zur Darmkrebsfrüherkennung; CI; confidence interval; CRC; colorectal cancer; GRS; genetic risk score; GWA
Keywords: واژگانی; CFTR-related disorder; cystic fibrosis; genotype; mutation; penetrance; variant; atypical CF; adult diagnosis of CF; CF; Cystic fibrosis; CFTR; CF transmembrane conductance regulator; CFTR2; Clinical and functional translation of CFTR; CT; Computed tomogr
Keywords: واژگانی; Atypical hemolytic uremic syndrome (aHUS); prophylactic therapy; plasmapheresis; eculizumab; living donor; kidney transplantation; recurrence; complement; mutation; variant; thrombotic microangiopathy (TMA); drug costs; end-stage renal disease (ESRD); cas
Keywords: واژگانی; Melanoma; Next generation sequencing (NGS); BRA; NRAS; Mutation; Variant;
Keywords: واژگانی; ATGs; Autophagy-related genes; HR; Hazard ratios; CI; Confidence intervals; eQTL; Expression quantitative trait loci; meQTL; Methylation quantitative trait loci; TCGA; The Cancer Genome Atlas; GTEx; Genotype-Tissue Expression; RSEM; RNA-Seq by Expectation
Keywords: واژگانی; cecal bascule; cecal volvulus; pediatric; perforation; variant
Keywords: واژگانی; Human papillomavirus 16; Variant; Cervical cancer; Case-control study; Meta-analysis;
Keywords: واژگانی; congenital insensitivity to pain with anhidrosis; NTRK1; phenotype; genotype; variant;
Keywords: واژگانی; Complement; Variant; Thrombotic microangiopathy
Keywords: واژگانی; Spinal accessory nerve; Variant; Neck dissection; Trapezius; Sternocleidomastoid
Keywords: واژگانی; AHAS; BCAAs; Variant; Resistance; Catalytic subunit; Regulatory subunit
Keywords: واژگانی; Histone; Variant; Expression; Stress; Rice; CENP-A; Centromere protein A; CREP; Collection of Rice Expression Profiles; GEO; Gene Expression Omnibus; MS; Murashige and Skoog; RT-PCR; Reverse transcription polymerase chain reaction; SMART; Simple Modular A
Keywords: واژگانی; CL; curvilinear bodies; DBS; dried blood spots; EM; transmission electron microscopy; FP; fingerprint profiles; GRODs; granular osmiophilic deposits; LM; light microscopy; NCL; neuronal ceroid lipofuscinoses disorders; NGS; Next Generation Sequencing tech
Keywords: واژگانی; chondrosarcoma; clear; dedifferentiated; mesenchymal; variant
Keywords: واژگانی; Capillary; dengue; genetics; intra-host; variant;
Keywords: واژگانی; Schizophrenia; Gene; Variant; Therapeutics; Polymorphism; Stratified medicinesADRA, alpha adrenoreceptors; CATIE, Clinical Antipsychotic Trials in Intervention Effectiveness; CNVs, copy number variants; D2, dopamine receptor subtype 2; DRD, dopamine recep
Keywords: واژگانی; KHV; Variant; Latency; Wild common carp;
Keywords: واژگانی; HPA axis; Postnatal depression; CRH receptor; GR; Variant;
Keywords: واژگانی; Overlap; Variant; Biliary cirrhosis; Sclerosing cholangitis; Autoimmune hepatitis;
Genetic variants within 17q12 are associated with the risk of cervical cancer in the Han Chinese population
Keywords: واژگانی; HR-HPV; high-risk human papillomavirus; GWAS; genome-wide association study; SNP; single nucleotide polymorphism; ENCODE; the Encyclopedia of DNA Elements; OR; odds ratio; MAF; minor allele frequency; LD; linkage disequilibrium; CI; confidence interval; O
Tissue-specific variation in 5ʹ-terminal exons of mouse Anoctamin 1 transcript induces N-terminal variation of its protein via alternative translational start sites
Keywords: واژگانی; Anoctamin 1; Promoter; Translation initiation site; Variant; 5-RACE;
The PNPLA3 SNP rs738409:G allele is associated with increased liver disease-associated mortality but reduced overall mortality in a population-based cohort
Keywords: واژگانی; PNPLA3; Variant; Mortality; Liver-related; Fatty liver disease; Population-based; Study of Health in Pomerania;
The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans
Keywords: واژگانی; SMA; spinal muscular atrophy; SMN; survival of motor neuron; NMD; nonsense-mediated decay; PTC; premature termination codon; fl-SMN1; full-length SMN1; DMEM; Dulbecco's modified Eagle's medium; MLPA; multiplex ligation-dependent probe amplification; PCR;
Exploring the deleterious SNPs in XRCC4 gene using computational approach and studying their association with breast cancer in the population of West India
Keywords: واژگانی; ARMS; amplification-refractory mutation system; BER; base excision repair; CI; confidence interval; DDG; Gibbs free energy change; HWE; Hardy-Weinberg equilibrium; HMM; Hidden Markov Model; NCBI; National Centre for Biological Information; NHEJ; non-hom
Targeted sequencing identifies novel GATA6 variants in a large cohort of patients with conotruncal heart defects
Keywords: واژگانی; CTDs; Conotruncal heart defects; CHDs; Congenital heart defects; TOF; Tetralogy of Fallot; TGA; Transposition of the great arteries; DORV; Double outlet right ventricle; PA/VSD; Pulmonary atresia with ventricular septal defect; PTA; Persistent truncus art
Characteristics of cribriform morular variant of papillary thyroid carcinoma in post-Chernobyl affected region
Keywords: واژگانی; Thyroid; Papillary thyroid carcinoma; Cribriform morular; Variant; Radiation; Pathology; Chernobyl;
Classification and evolution of human papillomavirus genome variants: Alpha-5 (HPV26, 51, 69, 82), Alpha-6 (HPV30, 53, 56, 66), Alpha-11 (HPV34, 73), Alpha-13 (HPV54) and Alpha-3 (HPV61)
Keywords: واژگانی; Human papillomavirus; Cervical cancer; Variant; Classification; Evolution;
SNCA REP1 and Parkinson's disease
Keywords: واژگانی; SNCA; Rep1; Phenotype; Variant; Meta-analysis;
Twinning characterization of fiber-textured AZ31B magnesium alloy during tensile deformation
Keywords: واژگانی; Magnesium alloy; Fiber texture; Twinning; Variant; Schmid factor;
Mitochondrial DNA variants modulate genetic susceptibility to Parkinson's disease in Han Chinese
Keywords: واژگانی; Parkinson's disease; Mitochondrial DNA; Displacement loop; Variant; Haplogroup;
Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis
Keywords: واژگانی; Amyotrophic lateral sclerosis; Sporadic; Japan; TBK1; Variant;
Association and in silico studies of ENPP1 gene variants with type 2 diabetes mellitus in a Northern Iranian population
Keywords: واژگانی; DM; diabetes mellitus; T2DM; type 2 diabetes mellitus; GWAS; genome-wide association studies; SNP; single nucleotide polymorphism; ENPP1; ectonucleotide pyrophosphatase/phosphodiesterase 1; UTR; Untranslated Region; K; lysine; Q; glutamine; ATP; Adenosine
Characterization of a novel variant BCR-ABL1 fusion transcript in a patient with chronic myeloid leukemia: Implications for molecular monitoring
Keywords: واژگانی; BCR-ABL1; Chronic myeloid leukemia; Molecular monitoring; Variant;
GJA1 gene variations in sudden unexplained nocturnal death syndrome in the Chinese Han population
Keywords: واژگانی; Variant; GJA1 gene; Sudden unexplained nocturnal death syndrome; GJ channels; 5â²UTR; 5 primer untranslated region; CX43; connexin 43; CX43-CT; C-terminal tail of CX43; CX40; connexin 40; CX45; connexin 45; DORV; double outlet right ventricule; GJ; gap j
Bartha-k61 vaccine protects growing pigs against challenge with an emerging variant pseudorabies virus
Keywords: واژگانی; Pseudorabies; Pseudorabies virus; Variant; Bartha-k61 vaccine;
SupplementApplying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses
Keywords: واژگانی; CFTR genetic testing; CFTR mutations; CFTR-related disorder; cystic fibrosis; genotype; genotype-phenotype correlation mutation; MVCC; penetrance; variant; CF; Cystic fibrosis; CFMD; CF Mutation Database; CFTR; CF transmembrane conductance regulator; CFTR
Novel interacting proteins identified by tandem affinity purification coupled to nano LC-MS/MS interact with ribosomal S6 protein kinase 4 (RSK4) and its variant protein (RSK4m)
Keywords: واژگانی; RSK4; ribosomal S6 protein kinase 4; SF-TAP; two STREP II and a single Flag tag-based tandem affinity purification; RSK4 wt; RSK4 wild-type; RSK4m; RSK4 variant; Breast cancer; RSK4; Interactome; Variant; Tandem affinity purification;
Identification and functional evaluation of two STAT3 variants in grass carp: Implication for the existence of specific alternative splicing of STAT3 gene in teleost
Keywords: واژگانی; Grass carp; STAT3; Variant; Functional identification; Teleost-specific splicing;
The global distribution and diversity of protein vaccine candidate antigens in the highly virulent Streptococcus pnuemoniae serotype 1
Keywords: واژگانی; Protein modelling; Structural diversity; Antigenic diversity; Antigenic profiling; Variant; Pneumococcal disease; Multi-valent; PCV;
ABCB1 2677G>T/A variant enhances chemosensitivity to anti-cancer agents acting on microtubule dynamics through LAMP1 inhibition
Keywords: واژگانی; ABCB1; Variant; Chemosensitivity; LAMP1;
Defects in recombination activity caused by somatic and germline mutations in the multimerization/BRCA2 binding region of human RAD51 protein
Keywords: واژگانی; HR; homologous recombination; HDR; homology-directed repair; DSB; DNA double-strand break; dsDNA; double-stranded DNA; ssDNA; single-stranded DNA; WT; wild-type; NTD; N-terminal domain; RHD; RecA homology domain; RAD51; Recombination; Homology-directed re
Advances in the computation of the Sjöstrand, Rossi, and Feynman distributions
Keywords: واژگانی; Subcritical; Sjöstrand; Rossi; Feynman; KUKA; MCNP. ERANOS; VARIANT; ECCO; PARTISN;
Genetic and functional analysis of TBK1 variants in Korean patients with sporadic amyotrophic lateral sclerosis
Keywords: واژگانی; Amyotrophic lateral sclerosis; Gene; Pathogenic; TBK1; Variant;
Genetic analysis of FGF20 variants in Chinese Han patients with essential tremor
Keywords: واژگانی; Essential tremor; Genotyping; FGF20 gene; Variant; Risk;
Prognostic value of an abnormal response to acetylcholine in patients with angina and non-obstructive coronary artery disease: Long-term follow-up of the Heart Quest cohort
Keywords: واژگانی; Coronary artery disease; Angina pectoris; Angina pectoris; Variant; Microvascular angina;
Cellular signalling of cysteinyl leukotriene type 1 receptor variants CysLT1-G300S and CysLT1-I206S
Keywords: واژگانی; cysLTs, cysteinyl-leukotrienes; CysLT1, cysteinyl-leukotriene type 1 receptor; WT, wild-type; LT, leukotriene; GPCR, G-protein-coupled receptorCysteinyl-leukotriene; CysLT1; Variant; Signalling; Atopy
Identification of Salmonella enterica Typhimurium and variants using a novel multiplex PCR assay
Keywords: واژگانی; Salmonella Typhimurium; Variant; MLST; Antibiotic resistance; Multiplex PCR
Evidences of abundant hemocyanin variants in shrimp Litopenaeus vannamei
Keywords: واژگانی; Litopenaeus vannamei; Hemocyanin; Variant; Specificity; Resistance; Pathogen;