Keywords: WES; Whole exome sequencing; Sialidosis; Ataxia; Myoclonus; Neurodeaminiase; NEU1;
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.
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.
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
Keywords: FOXG1; whole exome sequencing; genetic testing; clinical research; diagnostic dilemma; diagnostic odyssey; secondary finding; UDN; Undiagnosed Diseases Network; WES; Whole exome sequencing;
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
Keywords: Eosinophilic esophagitis; eosinophilic oesophagitis; esophageal epithelium; epithelial differentiation; epithelial barrier; proteases; protease inhibitors; serine protease inhibitors; Kazal type; AD; Atopic dermatitis; ALI; Air-liquid interface; BMP; Bone
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
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
Keywords: ID; intellectual disability; ASD; autism spectrum disorders; WES; whole exome sequencing; WHSUS; White-Sutton syndrome; KS; Kabuki syndrome1; POGZ; KMT2D; Neurodevelopmental disorder;
Keywords: Digenic inheritance; WES; dRTA Childhood; Libya; Early-onset sensorineural hearing loss;
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
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
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
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;
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
Keywords: NGS; next-generation sequencing; WES; whole-exome sequencing; WGS; whole-genome sequencing;
Keywords: desmosome; junctional plakoglobin (JUP); whole-exome sequencing; skin fragility; lethal congenital epidermolysis bullosa; Naxos syndrome; JUP; Junctional plakoglobin; WES; Whole-exome sequencing;
Keywords: secondary findings; gene panels; exome sequencing; WES; Whole exome sequencing;
Keywords: Colon Cancer; Inherited; Germline; Exome Sequencing; CRC; colorectal cancer; MAF; minor alelle frequency; WES; whole-exome sequencing;
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;
Keywords: Exome sequencing; Diagnostic turnaround time; Undiagnosed genetic conditions; WES; Whole Exome Sequencing; WGS; Whole Genome Sequencing; ID; Intellectual Deficiency;
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
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
Keywords: GWAS; WXS; WES; Finnish; PD;
Keywords: ACMGG; American College of Medical Genetics and Genomics; EMR; electronic medical record; GWAS; genome-wide association study; HGP; Human Genome Project; SNP; single-nucleotide polymorphism; WES; whole-exome sequencing; WGS; whole-genome sequencing; VUS;
Keywords: AC; Amsterdam criteria; AFAP; attenuated familial adenomatous polyposis; APC; adenomatous polyposis coli; CAP; College of American Pathologists; CD; Crohn disease; CLIA; Clinical Laboratory Improvement Amendments; CRC; colorectal cancer; dMMR; deficient m
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
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
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
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
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
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;
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
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
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;
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
Keywords: ACMG; American College of Medical Genetics and Genomics; CPVT; catecholaminergic polymorphic ventricular tachycardia; ECG; electrocardiogram; ExAC; Exome Aggregation Consortium; HCM; hypertrophic cardiomyopathy; INDEL; insertion/deletion; LOF; loss of fun
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;
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;
Keywords: ALT; alanine transaminase; AST; aspartate transaminase; CDG; congenital disorder of glycosylation; GSD; glycogen storage disease; IEF; isoelectric focusing; LFT; liver function tests; MS; mass spectrometry; NGS; next generation sequencing; PAS; Periodic a
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;
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
Keywords: GATK; Genome Analysis Toolkit; HGMD; Human Mutation Database; IRB; institutional review board; VUS; variants of uncertain significance; WES; whole-exome sequencing;
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;
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
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
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
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
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
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
Keywords: ACMG; American College of Medical Genetics; NGS; Next-generation sequencing; PCR; Polymerase chain reaction; PKU; Phenylketonuria; VLCAD; Very long chain acyl-CoA dehydrogenase; VUS; Variants of unknown significance; WES; Whole exome sequencing; WGS; Whol