Keywords: یک نوع نوکلئوتید تک; DCM; dilated cardiomyopathy; SIFT; Sorting Intolerant from Tolerant; CADD; Combined Annotation Depletion Dependent; GWAS; genome wide association studies; NGS; Next Generation DNA sequencing; ExAC; Exome Aggregation Consortium; SNV; Single Nucleotide Vari
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Keywords: یک نوع نوکلئوتید تک; Salmonella; Shedding; Colonization; Single nucleotide variant; Pig; Mannan-binding lectin A (MBL1); Nucleotide-binding oligomerization domain-containing protein 1 (NOD1);
Keywords: یک نوع نوکلئوتید تک; TGP; targeted genomic profiling; LDT; laboratory developed test; FFPE; formalin-fixed paraffin-embedded; SNV; single nucleotide variant; InDel; insertion or deletion; VAF; variant allele fraction; Solid tumor genomic profiling; Laboratory developed tests;
Keywords: یک نوع نوکلئوتید تک; MDD; major depressive disorder; WGS; whole-genome sequencing; CNV; copy number variation; SNV; single nucleotide variant; INDEL; small insertion and deletion; Major depressive disorder; Healthy controls; Paired-end reads; Deletion; Chromosome; Mexican-Ame
Keywords: یک نوع نوکلئوتید تک; 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: یک نوع نوکلئوتید تک; RPD; repeat protein domain; MSA; multiple sequence alignment; PPI; protein-protein interaction; TPR; tetratricopeptide repeat; ANK; Ankyrin repeat; ExAC; Exome Aggregation Consortium; SNV; single nucleotide variant; DAF; derived allele frequency; PDB; P
Keywords: یک نوع نوکلئوتید تک; Colorectal Cancer; Cell Lines; Proteomics; Drug Sensitivity; 5-FU; 5-fluorouracil; CMS; consensus molecular subtype; CPTAC; Clinical Proteomic Tumor Analysis Consortium; CRC; colorectal cancer; FDR; false discovery rate; GDSC; Genomics of Drug Sensitivity
Keywords: یک نوع نوکلئوتید تک; CS; Currarino Syndrome; MNX1; Motor Neuron and Pancreas Homeobox; Mb; Megabase; SNV; single nucleotide variant; ETV3L; ETS Variant 3 Like; ARID5A; AT-rich interactive domain-containing protein 5A; NCAPD3; non-SMC condensin II complex subunit D3; ARM; Anor
Keywords: یک نوع نوکلئوتید تک; Autism spectrum disorder; Chromosome microarray analysis; Diagnostic yield; Global developmental delay; SNP microarray; DSM-5; Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition; ID; Intellectual Disability; ISCA; International Standards
Keywords: یک نوع نوکلئوتید تک; 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: یک نوع نوکلئوتید تک; Whole genome sequencing; WGS; Carbapenem resistance; CRE; CRKP; Nosocomial transmission; PFGE; Single nucleotide variant; SNV; Klebsiella pneumoniae; Tn4401; Mutation; NGS
Keywords: یک نوع نوکلئوتید تک; Single nucleotide variant; Toehold strand displacement; Lambda exonuclease; Fluorescent probe
Keywords: یک نوع نوکلئوتید تک; Next-generation sequencing; Polycomb; CNV; Single nucleotide variant; Rare variant; Chromatin remodeling;
Keywords: یک نوع نوکلئوتید تک; 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: یک نوع نوکلئوتید تک; Severe combined immunodeficiency; severe combined immunodeficiency newborn screening; next-generation sequencing; molecular diagnostics; AT; Ataxia telangiectasia; CGH; Comparative genomic hybridization; CHARGE; Coloboma, heart defects, choanal atresia, g
Keywords: یک نوع نوکلئوتید تک; Cancer genetics; BRCA1/2; Whole-genome sequence; ClinVar; Pathogenic variants; Single nucleotide variant
Keywords: یک نوع نوکلئوتید تک; SNV; single nucleotide variant; GWAS; genome-wide association study; NGS; next-generation sequencing; MHC; major histocompatibility complex; p; protein (amino acid position); SNP; single nucleotide polymorphism; ABC; ATP-binding cassette; PBC; primary bil
Keywords: یک نوع نوکلئوتید تک; autism genetics; autism spectrum disorder; copy number variant; exome sequencing; intellectual disability; single nucleotide variant
Association between Psoriasis and haplotypes of the IgH 3' Regulatory Region 1
Keywords: یک نوع نوکلئوتید تک; 3'RR; 3' Regulatory Region; IgH; Immunoglobulin heavy locus; P; Psoriatic patients; H; Healthy controls; SNP; Single Nucleotide Polymorphism; SNV; Single Nucleotide Variant; IgH 3'RR-1; Enhancer hs1.2; 3D chromatin; Polymorphism; Haplotypes; DNA methylati
The ADRA2A rs553668 variant is associated with type 2 diabetes and five variants were associated at nominal significance levels in a population-based case-control study from Mexico City
Keywords: یک نوع نوکلئوتید تک; ADRA2A; Alpha-2a-adrenergic receptor; BMI; Body mass index; CHO; Cholesterol; DNA; Deoxyribonucleic acid; ENSANUT; National Survey of Health and Nutrition; FPG; Fasting plasma glucose; GWAS; Genome wide association study; HDL-C; Cholesterol high density l
Panel Sequencing Shows Recurrent Genetic FAS Alterations in Primary Cutaneous Marginal Zone Lymphoma
Keywords: یک نوع نوکلئوتید تک; MZL; marginal zone lymphoma; NGS; next-generation sequencing; PCMZL; primary cutaneous marginal zone lymphoma; SNV; single nucleotide variant;
Quo vadis, trophoblast? Exploring the new ways of an old cell lineage
Keywords: یک نوع نوکلئوتید تک; Preeclampsia; Placenta; (TRIC); Trophoblast retrieval and isolation from the cervix; (PE); Preeclampsia; (HLA-G); human leukocyte antigen G; (EVT); Some extravillous trophoblast; (VT); villous trophoblast; (STR); small tandem repeat; (SNV); single nucleot
Spectrum of mutations in leiomyosarcomas identified by clinical targeted next-generation sequencing
Keywords: یک نوع نوکلئوتید تک; Leiomyosarcoma; Molecular diagnostics; Deep sequencing; DNA mutational analysis; Copy number alterations; DNA sequencing; Single nucleotide variant;
Pathogenic and likely pathogenic genetic alterations and polymorphisms in growth hormone gene (GH1) and growth hormone releasing hormone receptor gene (GHRHR) in a cohort of isolated growth hormone deficient (IGHD) children in Sri Lanka
Keywords: یک نوع نوکلئوتید تک; GH; Growth hormone; IGHD; Isolated growth hormone deficiency; SNV; Single nucleotide variant; TGP; Thousand genome project; ExAC; Exome aggregation consortium; MAF; Minor allele frequency/minor allele count; GH1 gene; GHRHR gene; Isolated growth hormone d
RXRB Is an MHC-Encoded Susceptibility Gene Associated with Anti-Topoisomerase IÂ Antibody-Positive Systemic Sclerosis
Keywords: یک نوع نوکلئوتید تک; ATA; anti-topoisomerase I antibody; CI; confidence interval; HLA; human leukocyte antigen; LD; linkage disequilibrium; MHC; major histocompatibility complex; NTD; N-terminal domain; OR; odds ratio; RA; retinoic acid; RH; risk haplotype; RXRB; retinoid X r
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease
Keywords: یک نوع نوکلئوتید تک; Whole-exome sequencing; Pompe disease; Glycogen storage disease type II; Limb girdle muscular dystrophy; Acid-alpha-1,4-glucosidase deficiency; GAA; ATAV; Analysis Tool for Annotated Variants; BWA; Burrows-Wheeler Aligner; CAP; College of American Patholo
Targeted Resequencing and Functional Testing Identifies Low-Frequency Missense Variants in the Gene Encoding GARP as Significant Contributors to Atopic Dermatitis Risk
Keywords: یک نوع نوکلئوتید تک; AD; atopic dermatitis; C11orf30; chromosome 11 open reading frame 30; GARP; glycoprotein A repetitions predominant; LAP; latency associated protein; LRRC32; leucine rich repeat containing 32; PBS; phosphate-buffered saline; SNV; single nucleotide variant;
Targeted capture massively parallel sequencing analysis of LCIS and invasive lobular cancer: Repertoire of somatic genetic alterations and clonal relationships
Keywords: یک نوع نوکلئوتید تک; Massively parallel sequencing; Invasive lobular carcinoma; Lobular carcinoma in situ; Clonality; Somatic genetic alterations; LCIS; lobular carcinoma in situ; TCGA; The Cancer Genome Atlas; ILC; invasive lobular carcinoma; LOH; loss of heterozygosity; MSK
Identification of Gene Mutations and Fusion Genes in Patients with Sézary Syndrome
Keywords: یک نوع نوکلئوتید تک; CARD; capsase recruitment domain; CNV; copy number variation; CTCL; cutaneous T-cell lymphoma; kb; kilobase; Mb; megabase; MF; mycosis fungoides; RAG; recombination activating gene; SNV; single nucleotide variant; SS; Sézary syndrome; STAT; signal transd
Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest
Keywords: یک نوع نوکلئوتید تک; CMR; cardiac magnetic resonance; CPVT; catecholaminergic polymorphic ventricular tachycardia; ECG; electrocardiogram; ICD; implantable cardioverter-defibrillator; LQTS; long QT syndrome; MYH6; myosin heavy chain 6 gene; PPM; permanent pacemaker; SNV; sing
Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility
Keywords: یک نوع نوکلئوتید تک; AKAP9; NRXN1; Single nucleotide variant; SNV; Psychosis; DISC1
Systems Genomics Identifies a Key Role for Hypocretin/Orexin Receptor-2 in Human Heart Failure
Keywords: یک نوع نوکلئوتید تک; genome-wide association study; HCRTR2; pharmacogenomics; GWAS; genome-wide association study; HCRTR2; hypocretin receptor-2; HF; heart failure; SNP; single nucleotide polymorphism; SNV; single nucleotide variant;
Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - Further extension of the mutational spectrum
Keywords: یک نوع نوکلئوتید تک; ASD; atrial septal defect; AVSD; atrioventricular septal defect; CHD; congenital heart defect; Cx43; connexin 43; EVS; exome variant server; FISH; fluorescent in situ hybridization; GJA1; gap junction alpha 1 gene; GJPA1; gap junction alpha 1 pseudogene;
Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing
Keywords: یک نوع نوکلئوتید تک; SNV; single nucleotide variant; Hoyeraal-Hreidarsson syndrome; Dyskeratosis congenita; Telomere dysfunction; DKC1; Whole-exome sequencing;
Targeted next-generation sequencing: AÂ novel diagnostic tool for primary immunodeficiencies
Keywords: یک نوع نوکلئوتید تک; Primary immunodeficiency; diagnosis; genetics; next-generation sequencing; ALPS; Autoimmune lymphoproliferative syndrome; CID; Combined immunodeficiency; HLH; Hemophagocytic lymphohistiocytosis; IUIS; International Union of Immunodeficiency Societies; NGS
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment
Keywords: یک نوع نوکلئوتید تک; Atopy; immune deficiency; hyper-IgE; neurocognitive impairment; phosphoglucomutase 3; glycosylation; allergy; autoimmunity; APC; Allophycocyanin; CDG; Congenital disorder of glycosylation; CFSE; Carboxyfluorescein succinimidyl ester; DOCK8; Dedicator of c
Accumulation of Somatic Mutations in TP53 in Gastric Epithelium With Helicobacter pylori Infection
Keywords: یک نوع نوکلئوتید تک; Stomach Cancer; Somatic Hypermutation; Pathogenesis; Bacteria; AID; activation-induced cytidine deaminase; Hupki; human TP53 knock-in; indel; insertion and deletion; MSI; microsatellite instability; MSS; microsatellite stability; PCR; polymerase chain rea