Keywords: توالی کامل exome; WES; Whole exome sequencing; Sialidosis; Ataxia; Myoclonus; Neurodeaminiase; NEU1;
مقالات ISI توالی کامل exome (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: توالی کامل exome; Barth syndrome; TAZ gene; dilated cardiomyopathy; whole exome sequencing; mitochondrial disease; sudden cardiac death; CL; Cardiolipin; ETC; Electron transport chain; MLCL; Monolysocardiolipin; RT-PCR; Reverse transcription polymerase chain reaction;
Keywords: توالی کامل exome; Canine tooth; Tooth eruption; Hypodontia; Whole exome sequencing; WNT signaling pathway;
Keywords: توالی کامل exome; Familial; Genetics; Whole exome sequencing; Hereditary; Multi-incident;
Keywords: توالی کامل exome; FOXG1; whole exome sequencing; genetic testing; clinical research; diagnostic dilemma; diagnostic odyssey; secondary finding; UDN; Undiagnosed Diseases Network; WES; Whole exome sequencing;
Keywords: توالی کامل exome; 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: توالی کامل exome; Mitochondrial disorders; Whole exome sequencing; mtDNA sequencing; Muscle biopsy;
Keywords: توالی کامل exome; Primary chemo-resistance; Epigenetic regulator mutations; Pediatric leukemia; Whole exome sequencing;
Keywords: توالی کامل exome; ID; intellectual disability; ASD; autism spectrum disorders; WES; whole exome sequencing; WHSUS; White-Sutton syndrome; KS; Kabuki syndrome1; POGZ; KMT2D; Neurodevelopmental disorder;
Keywords: توالی کامل exome; 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: توالی کامل exome; 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: توالی کامل exome; 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: توالی کامل exome; Genetics; Sudden cardiac death; GWAS; Whole exome sequencing; Calmodulin; Cadherin;
Keywords: توالی کامل exome; Whole exome sequencing; Osteogenesis imperfecta; Dentinogenesis imperfecta;
Keywords: توالی کامل exome; Lysosomal storage disorders; Lysosomal disorders; Whole exome sequencing; Inborn errors of metabolism; Undiagnosed diseases; Rare diseases;
Keywords: توالی کامل exome; Idiopathic fatal pulmonary embolism; Whole exome sequencing; Severe thrombophilia; Natural anticoagulant deficiency;
Keywords: توالی کامل exome; Spinocerebellar ataxia type 15; Whole exome sequencing; Complex hereditary movement disorder; Autosomal dominant spinocerebellar ataxia;
Keywords: توالی کامل exome; secondary findings; gene panels; exome sequencing; WES; Whole exome sequencing;
Keywords: توالی کامل exome; Whole exome sequencing; Hepatocellular adenoma; Hepatocellular carcinoma; Hepatocellular adenoma-carcinoma transition; Brain metastasis; FFPE tissue molecular analysis;
Keywords: توالی کامل exome; 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: توالی کامل exome; Whole exome sequencing; Diabetic retinopathy; Candidate genes; Aberrant angiogenesis;
Keywords: توالی کامل exome; 100,000 Genomes Project; basket trials; Stratified Medicine Programme; umbrella trials; whole exome sequencing; whole genome sequencing;
Keywords: توالی کامل exome; Exome sequencing; Diagnostic turnaround time; Undiagnosed genetic conditions; WES; Whole Exome Sequencing; WGS; Whole Genome Sequencing; ID; Intellectual Deficiency;
Keywords: توالی کامل exome; Next-generation sequencing; Targeted gene sequencing; Whole exome sequencing;
Keywords: توالی کامل exome; Clinical exomes; Whole exome sequencing; STRADA; Family planning; Surveillance;
Keywords: توالی کامل exome; 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: توالی کامل exome; 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: توالی کامل exome; Systems biology; Immunotherapy; Cancer genomics; Whole exome sequencing; RNA sequencing; T-cell receptors; Neoantigens; HLA typing; Immuno-predictive score; CTL; Cytotoxic T-lymphocyte; HLA; Human leukocyte antigen; HTS; High-throughput sequencing; IHC; i
Keywords: توالی کامل exome; Parkinson's disease; Common risk loci; Rare variants; Whole exome sequencing; Variant aggregation test;
Keywords: توالی کامل exome; Junctional epidermolysis bullosa; Whole exome sequencing; Protein modeling;
Keywords: توالی کامل exome; chromosomal microarray analysis; genetic diseases; neonatal medicine; whole exome sequencing;
Keywords: توالی کامل exome; Nemaline myopathy; NEB; Whole exome sequencing; Comparative genomic hybridization; Copy number variation;
Keywords: توالی کامل exome; 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: توالی کامل exome; Arab countries; Human genome sequencing; Whole exome sequencing; Consanguinity; Endogamous marriage; Novel genes; Novel variants
Keywords: توالی کامل exome; 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: توالی کامل exome; Cone-rod dystrophy; Molecular genetics; Sanger sequencing; Whole exome sequencing; Chinese population;
Keywords: توالی کامل exome; AFR; African; AMR; Latino; BDSRA; Batten Disease Support and Research Association; EAS; East Asian; ExAC; Exome Aggregation Consortium; FIN; Finnish; FTD; frontotemporal dementia; HGMD; Human Gene Mutation Database; NCL; neuronal ceroid lipofuscinosis; NF
Keywords: توالی کامل exome; 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: توالی کامل exome; Anophthalmia; Microphthalmia; ALDH1A3; FOXE3; VSX2; Consanguinity; Autosomal recessive; Whole exome sequencing; A/M; Anophthalmia/Microphthalmia; AR; Autosomal Recessive; AD; Autosomal Dominant; PCR; Polymerase Chain Reaction; SIFT; Sorting Intolerant Fro
Keywords: توالی کامل exome; 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: توالی کامل exome; Molecular genetics; Whole exome sequencing; Next-generation sequencing; Pancreatic neoplasms; Mutation; Histologic type;
Keywords: توالی کامل exome; Genetic diagnosis; Maturity-onset diabetes of the young; Monogenic diabetes; Type 2 diabetes; Whole exome sequencing;
Keywords: توالی کامل exome; 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: توالی کامل exome; Mitochondrial disease; Complex I; mtDNA; Whole exome sequencing; Enzyme measurement;
Keywords: توالی کامل exome; 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: توالی کامل exome; ChIP-seq; Chromatin; Epigenetics; Gene regulatory network; Genomics; High throughput data; Network analysis; Photoreceptor; Retina; Retinal disease; RNA-Seq; Systems biology; Transcriptome; Vision; Whole exome sequencing; Whole genome sequencing; NGS data
Keywords: توالی کامل exome; 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: توالی کامل exome; 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: توالی کامل exome; Congenital myasthenia; Mitochondrial respiratory chain; Mutation; DOK7; COLQ; Duchenne muscular dystrophy; Whole exome sequencing
Keywords: توالی کامل exome; causes; cerebral palsy; DNA variants; epidemiological risk factors; genetic variants; genomics; heterogeneity; whole exome sequencing;