WES

در این صفحه تعداد 135 مقاله تخصصی درباره که در نشریه های معتبر علمی و پایگاه ساینس دایرکت (Science Direct) منتشر شده، نمایش داده شده است. برخی از این مقالات، پیش تر به زبان فارسی ترجمه شده اند که با مراجعه به هر یک از آنها، می توانید متن کامل مقاله انگلیسی همراه با ترجمه فارسی آن را دریافت فرمایید.
در صورتی که مقاله مورد نظر شما هنوز به فارسی ترجمه نشده باشد، مترجمان با تجربه ما آمادگی دارند آن را در اسرع وقت برای شما ترجمه نمایند.
مقالات ISI (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: TS; thrombotic storm; CS; chondroitin sulfate; APS; antiphospholipid antibody syndrome; aPL; antiphospholipid antibodies; TM; thrombomodulin; PROC; protein C; PROS1; protein S; PLG; plasminogen; PLAT; plasminogen activator; WES; whole exome sequencing; CG
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: FOXG1; whole exome sequencing; genetic testing; clinical research; diagnostic dilemma; diagnostic odyssey; secondary finding; UDN; Undiagnosed Diseases Network; WES; Whole exome sequencing;
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: Lipid extrusion; Lipid spheronization; Solid lipids; Spheroids; Formation mechanism; Lipid pellets; Metformin hydrochloride (PubChem CID: 14219); Glyceryl trimyristate (PubChem CID: 11148); Glyceryl distearate (PubChem: CID 114690); API; Active pharmaceut
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: WES; IBD; Neutrophil Oxidative Burst; Genetic Variant; ATP; adenosine triphosphate; CADD; Combined Annotation-Dependent Depletion; CD; Crohn's disease; CGD; chronic granulomatous disease; FMLP; N-formyl-methionyl-leucyl-phenylalanine; GM-CSF; granulocyt
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: Esophageal Cancer; Genomics; Epigenomics; ADAR; adenosine deaminases acting on RNA; APOBEC; apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like; BCH; basal cell hyperplasia; CIS; carcinoma in situ; CNA; copy number alteration; ESCC; esophagea
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: ID; intellectual disability; ASD; autism spectrum disorders; WES; whole exome sequencing; WHSUS; White-Sutton syndrome; KS; Kabuki syndrome1; POGZ; KMT2D; Neurodevelopmental disorder;
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: Colorectal Cancer; Microsatellite Instability; Tumorigenic Process; Driver Gene Mutations; Positive and Negative Selection; bp; base pair; CRC; colorectal cancer; HR; hazard ratio; indel; insertion/deletion; MLH1; MutL Homolog 1; MMR; mismatch repair; mRN
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: Optic nerve; Second cranial nerve; Optic neuropathy; mtDNA; Oxidative phosphorylation; Mitochondrial; Respiratory chain; ADOA; Autosomal dominant optic atrophy; AION; Anterior ischemic optic neuropathy; AROA; Autosomal recessive optic atrophy; ATP; Adenos
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: FGFR2; fibroblast growth factor receptor gene 2; FGFR3; fibroblast growth factor receptor gene 3; TWIST1; twist family bHLH transcription factor 1; EFNB1; ephrin B1; WES; whole exome sequencing; 3D-CT; three-dimensional computed tomography; SNPs; single
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: DLBCL; diffuse large B-cell lymphoma; R-CHOP; rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone; NHL; non-Hodgkin lymphoma; GEP; gene expression profiling; COO; cell-of-origin; GCB; germinal center B-cell; ABC; activated B-cell; PMBL;
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: ADHD; Attention Deficit and Hyperactivity Disorder; ACMG; American College of Medical Genetics; AR; Autosomal Recessive; ASD; Autism Spectrum Disorders; aCGH; array Comparative Genomic Hybridization; BP; BreakPoints; CK1; Casein- Kinase 1; CdLS; Cornelia
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: desmosome; junctional plakoglobin (JUP); whole-exome sequencing; skin fragility; lethal congenital epidermolysis bullosa; Naxos syndrome; JUP; Junctional plakoglobin; WES; Whole-exome sequencing;
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: ct-DNA; circulating tumor DNA; MSI; microsatellite instability; NCI; National Cancer Institute; NGP; next-generation panel; NGS; next-generation sequencing; WES; whole exome sequencing; WGS; whole genome sequencing;
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: Exome sequencing; Diagnostic turnaround time; Undiagnosed genetic conditions; WES; Whole Exome Sequencing; WGS; Whole Genome Sequencing; ID; Intellectual Deficiency;
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: ABC; advanced breast cancer; CGH; comparative genomic hybridization; CNA; copy number alterations; CTC; circulating tumor cells; ctDNA; cell-free tumor DNA; DEP; dielectrophoretic; DFS; disease-free survival; dPCR; digital PCR; EBC; early breast cancer; E
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: cardiomyocytes; children; genetics; immunity; sequencing; virus; AM; acute myocarditis; ARVC; arrhythmogenic right ventricular cardiomyopathy; AVM; acute viral myocarditis; CVB3; Coxsackie virus B3; DCM; dilated cardiomyopathy; iPSC; induced pluripotent s
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: ACM; arrhythmogenic cardiomyopathy; ACMG; American College of Medical Genetics and Genomics; AF; atrial fibrillation; BrS; Brugada syndrome; CHD; coronary heart disease; CPVT; catecholaminergic polymorphic ventricular tachycardia; CVD; cardiovascular dise
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: Liver Cancer; Next-Generation Sequencing; Patient-Derived Cell Lines; Targeted Therapy; AFP; α-fetoprotein; FGFR; fibroblast growth factor receptor; HBV; hepatitis B virus; HCC; hepatocellular carcinoma; IC50; 50% inhibitory concentration; ITH; intratumo
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: Esophagus; Sequencing; Carcinogenesis; Driver Mutation; APOBEC; apolipoprotein B messenger RNA editing enzyme, catalytic polypeptide-like; CNA; copy number alteration; EAC; esophageal adenocarcinoma; ESCC; esophageal squamous cell carcinoma; ESSH; esophag
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: NGS; next-generation sequencing; WGS; whole-genome sequencing; WES; whole-exome sequencing; AD; Autosomal Dominant; AR; Autosomal Recessive; XLR; X-Linked Recessive; OI; osteogenesis imperfecta; OSMED; oto-spondylo-mega-epiphyseal dysplasia; SADDAN; sever
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: SCLC; small cell lung carcinoma; NSCLC; non-small cell lung carcinoma; ADC; adenocarcinoma; SCC; squamous cell carcinoma; EGFR; epidermal growth factor receptor; COSMIC; catalogue of somatic mutations in cancer; WES; whole exome sequencing; TCGA; The Canc
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: Eosinophilic esophagitis; IL-1 cytokines; protease activity; IL-13; differentiation; whole-exome sequencing; mutations; ALI; Air-liquid interface; CAPN14; Calpain 14; CRNN; Cornulin; EDC; Epidermal differentiation complex; EG; Eosinophilic gastritis; EoE;
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: Primary immunodeficiency disease; whole-exome sequencing; copy number variants; AD; Autosomal dominant; ALPS; Autoimmune lymphoproliferative syndrome; AR; Autosomal recessive; BCM; Baylor College of Medicine; BHCMG; Baylor-Hopkins Center for Mendelian Gen
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: pure red cell aplasia; whole exome sequencing; autoinflammatory diseases; vasculitis; ADA; Adenosine deaminase; WES; Whole exome sequencing; CECR1; Cat eye syndrome chromosome region candidate 1; PRCA; Pure red cell aplasia; DBA; Diamond-Blackfan anemia
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: CI; confidence interval; IRD; inherited retinal disease; MCGM; Manchester Centre for Genomic Medicine; NGS; next-generation sequencing; RP; retinitis pigmentosa; SNV; single nucleotide variant; WES; whole exome sequencing; WGS; whole genome sequencing;
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: ARVD/C; arrhythmogenic right ventricular dysplasia/cardiomyopathy; BrS; Brugada syndrome; CHD; coronary heart disease; CPVT; catecholaminergic polymorphic ventricular tachycardia; DCM; dilated cardiomyopathy; GWAS; genome wide association study; HCM; hype
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: AD; autosomal dominant; AR; autosomal recessive; BrS; Brugada syndrome; CPVT; catecholaminergic polymorphic ventricular tachycardia; ECG; electrocardiogram/electrocardiography/electrocardiographic; FDR; first-degree relative; LQTS; long QT syndrome; NGS;
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: ACC; agenesis of the corpus callosum; aCGH; array comparative genomic hybridization; ADHD; Attention deficit hyperactivity disorder; ASD; autism spectrum disorders; BCAA; branched-chain amino acids; BCKD; branched-chain α-ketoacid dehydrogenase complex;
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: 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;
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: Immunology; primary immunodeficiency; dedicator of cytokinesis 8; HIV1; recombination-activating gene 1; intravenous immunoglobulin; common variable immunodeficiency; severe combined immunodeficiency; newborn screening; ADA; Adenosine deaminase; ApoE; Apo
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: AAP; American Academy of Pediatrics; ACMG; American College of Medical Genetics and Genomics; SOB; Section on Bioethics; SOG; Section on Genetics and Birth Defects; WES; Whole-exome sequencing; WGS; Whole-genome sequencing;
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: LD; Leukodystrophies; gLE; Genetic leukoencephalopathy; MR; Magnetic resonance; MRI; Magnetic resonance imaging; GLIA; Global Leukodystrophy Initiative; CNS; Central nervous system; SIMD; Society for Inherited Metabolic Disorders; VWM; Vanishing white mat
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: ACMG; American College of Medical Genetics; BrS; Brugada syndrome; CPVT; catecholaminergic polymorphic ventricular tachycardia; ECG; electrocardiogram; ICD; implantable cardioverter-defibrillator; LQTS; long QT syndrome; VUS; variants of uncertain/unknown
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: 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
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Keywords: Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator protein; CFTR2; Correctors; Potentiators; Trial end-points; Amil; Amiloride; AMP; Accelerating Medicine Partnership; ANO; anoctamins; AONs; antisense oligonucleotides; ASL; airway surfac
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: Molecular Classification; Genomic Profiling; Outcome; Targeted Therapies; CI; confidence interval; CNV; copy number variations; EGFR; epidermal growth factor receptor; EpCAM; epithelial cellular adhesion molecule; FDR; false discovery rate; FF; fresh-froz
Elsevier - ScienceDirect - الزویر - ساینس دایرکت
Keywords: ARVC; arrhythmogenic right ventricular cardiomyopathy; BrS; Brugada syndrome; HCM; hypertrophic cardiomyopathy; LQTS; long QT syndrome; SCD; sudden cardiac death; VUS; variant of uncertain significance; WES; whole exome sequencing; WGS; whole genome seque