Keywords: توالی کامل exome; BMP15; Infertility; Primary ovarian insufficiency; Whole-exome sequencing;
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; Clear cell papillary renal cell carcinoma; Cytokeratin 7 immunoreactivity; Whole-exome sequencing;
Keywords: توالی کامل exome; Hemifacial microsomia; Monozygotic twins; Discordant; Whole-exome sequencing;
Keywords: توالی کامل exome; Prostatic stromal tumor of uncertain malignant potential; Stromal sarcoma; Whole-exome sequencing; Fluorescence in situ hybridization; Somatic copy number alteration;
Keywords: توالی کامل exome; 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: توالی کامل exome; 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: توالی کامل exome; 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: توالی کامل exome; Next-generation sequencing; Whole-exome sequencing; Epilepsy; Genetics; Monogenic epilepsy; Precision medicine;
Keywords: توالی کامل exome; 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: توالی کامل exome; Alzheimer's disease; Clinical symptoms; Whole-exome sequencing; Mutation burden; Coding variation;
Keywords: توالی کامل exome; Pleura; Calcifying fibrous tumor; Pseudotumor; Whole-exome sequencing; DNA;
Keywords: توالی کامل exome; Papillary thyroid cancer; Whole-exome sequencing; LRRC8D mutation; NDRG1 mutation; The Cancer Genome Atlas;
Keywords: توالی کامل exome; 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: توالی کامل exome; Intrahepatic cholangiocarcinoma; Whole-exome sequencing; Patient-derived primary cancer cells; Clonal evolution; Intratumor heterogeneity; Branch evolution;
Keywords: توالی کامل exome; Combined immunodeficiencies; next-generation DNA sequencing; whole-exome sequencing; targeted gene panel sequencing; AT; Ataxia telangiectasia; BCG; Bacillus Calmette-Guérin; BCGosis; Disseminated BCG infection; CID; Combined immunodeficiency; HIES; Hy
Keywords: توالی کامل exome; NGS; next-generation sequencing; WES; whole-exome sequencing; WGS; whole-genome sequencing;
Keywords: توالی کامل exome; desmosome; junctional plakoglobin (JUP); whole-exome sequencing; skin fragility; lethal congenital epidermolysis bullosa; Naxos syndrome; JUP; Junctional plakoglobin; WES; Whole-exome sequencing;
Keywords: توالی کامل exome; Whole-exome sequencing; Consanguinity; Clinical exome interpretation; Diagnostic odyssey; Next-generation sequencing;
Keywords: توالی کامل exome; Vanishing white matter disease; EIF2B2; Leukoencephalopathy; Whole-exome sequencing; Cataract; Amenorrhea;
Keywords: توالی کامل exome; Colon Cancer; Inherited; Germline; Exome Sequencing; CRC; colorectal cancer; MAF; minor alelle frequency; WES; whole-exome sequencing;
Keywords: توالی کامل exome; Genomic profiling; Adolescent and young adult cancer; Pediatric tumors; Whole-exome sequencing; RNA sequencing; Next-generation sequencing;
Keywords: توالی کامل exome; Oral tongue squamous cell carcinoma; Never-smoker; Cell line; STR DNA fingerprint analysis; Sphere-forming assay; SKY analysis; Whole-exome sequencing; Single nucleotide polymorphism; Insertion or deletion; DNA copy number aberration;
Keywords: توالی کامل exome; 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: توالی کامل exome; brachyfacial pattern; congenital atrioventricular block; connexin-45; dentodigital dysplasia; knockout mice; whole-exome sequencing; AV; atrioventricular; CCD; cardiac conduction disease; Cx; connexin; ECG; electrocardiogram/electrocardiographic; GJ; gap
Keywords: توالی کامل exome; 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: توالی کامل exome; energy metabolism; mitochondria; Sasang constitutional medicine; whole-exome sequencing;
Keywords: توالی کامل exome; femoral neck; fractures; osteoarthritis; osteoarthrosis; coxarthrosis; trabecular bone; polymorphism; whole-Exome sequencing; gene variants; bioinformatics analysis; INDEL mutation; genome; computational biology;
Keywords: توالی کامل exome; Undiagnosed or rare diseases (URDs); Whole-exome sequencing; Misdiagnosis;
Keywords: توالی کامل exome; Immunology; primary immunodeficiency; whole-exome sequencing; hematopoietic stem cell transplantation; common variable immunodeficiency; severe combined immunodeficiency; hyper-IgE syndrome; AIP1; Actin-interacting protein 1; APDS; Activated PI3Kδ syndro
Keywords: توالی کامل exome; 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: توالی کامل exome; 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: توالی کامل exome; 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: توالی کامل exome; 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: توالی کامل exome; 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: توالی کامل exome; 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: توالی کامل exome; Growth; growth plate; growth plate senescence; chondrogenesis; short stature; genome-wide association study; whole-exome sequencing; GWA; Genome-wide association; IGF-I; Insulin-like growth factor-I;
Keywords: توالی کامل exome; Pyruvate dehydrogenase complex deficiency; PDHc; PDHA1; DLD; Novel pathogenic variants; Whole-exome sequencing
Keywords: توالی کامل exome; Whole-genome sequencing; Whole-exome sequencing; Direct-to-consumer genetic testing; Consumer genomics; Human genome research; Consent;
Keywords: توالی کامل exome; Epileptic encephalopathy; West syndrome; Involuntary movement; Hyperkinetic movement; Hand stereotype; Whole-exome sequencing
Keywords: توالی کامل exome; Anterior cruciate ligament injury; Soft tissue injuries; Polymorphism; Whole-exome sequencing; Single nucleotide; bioinformatics analysis; INDEL mutation; Genome; Computational biology;
Keywords: توالی کامل exome; Immunology; primary immunodeficiency; whole-exome sequencing; hematopoietic stem cell transplantation; common variable immunodeficiency; severe combined immunodeficiency; hyper-IgE syndrome; AD; Autosomal dominant; AR; Autosomal recessive; BCL10; B-cell l
Keywords: توالی کامل exome; 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: توالی کامل exome; Short stature; Height; Genome-wide analysis; Microarray analysis; Whole-exome sequencing;
Keywords: توالی کامل exome; bone mass; osteoporosis; genome-wide association; whole-exome sequencing; pathways
Keywords: توالی کامل exome; Workflow-based application; Whole-exome sequencing; Performance analysis; Cloud computing; HPC;
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; Copy number variation; Whole-exome sequencing; CNV discovery; Combinatorial approach; CNV genotyping
Keywords: توالی کامل exome; Spinocerebellar ataxia-2; Parkinsonism; Linkage analysis; Whole-exome sequencing; Mutation;
Keywords: توالی کامل exome; 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