Keywords: تجزیه و تحلیل جهش; TNFAIP3; A20; Hodgkin lymphoma; Mutation analysis; NF-κB signaling;
مقالات ISI تجزیه و تحلیل جهش (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: تجزیه و تحلیل جهش; Formal methods; Model checking; Mutation analysis; Web Service Modeling Ontology; Semantic web services.;
Keywords: تجزیه و تحلیل جهش; Debugging; mutation analysis; Language interoperability; Foreign function interface;
Keywords: تجزیه و تحلیل جهش; Alkaline phosphatase; Hypophosphatasia; Mutation analysis; Pyridoxal phosphate; Phosphoethanolamine; ALPL
Keywords: تجزیه و تحلیل جهش; Individualization of treatment; Medical oncologists; Mixed methods; Mutation analysis; Needs assessment;
Keywords: تجزیه و تحلیل جهش; Autosomal recessive congenital ichthyosis; Malaysia; Mutation analysis;
Keywords: تجزیه و تحلیل جهش; Event-driven software; Web application; Event; Test case generation; Functional graph; Mutation analysis;
Keywords: تجزیه و تحلیل جهش; Antithrombin; Mutation analysis; Risk assessment;
Keywords: تجزیه و تحلیل جهش; Nanomanipulations; Motion control; Mutation analysis; Scanning probe microscopes; Visual servoing; Image based control
Keywords: تجزیه و تحلیل جهش; Mutation analysis; Mutants' impact; Equivalent mutants; Mutant classification; Mutation testing strategies
Keywords: تجزیه و تحلیل جهش; CVD diamond; Heat transfer resistance; Mutation analysis; Array;
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization
Keywords: تجزیه و تحلیل جهش; Homocystinuria due to cystathionine beta-synthase deficiency; Clinical presentation; Mutation analysis;
DNA sequencing and copy number variation analysis of MCHR2 in a cohort of Prader Willi like (PWL) patients
Keywords: تجزیه و تحلیل جهش; Prader Willi like; Obesity; MCHR2; Microarray; Mutation analysis;
Patterns of Kidney Function Decline in Autosomal Dominant Polycystic Kidney Disease: A Post Hoc Analysis From the HALT-PKD Trials
Keywords: تجزیه و تحلیل جهش; Autosomal dominant polycystic kidney disease (ADPKD); Bayesian models; end-stage renal disease (ESRD); estimated glomerular filtration rate (eGFR); eGFR trajectory; eGFR slope; total kidney volume; mutation analysis; kidney disease progression;
Adaptation to the coupling of glycolysis to toxic methylglyoxal production in tpiA deletion strains of Escherichia coli requires synchronized and counterintuitive genetic changes
Keywords: تجزیه و تحلیل جهش; Adaptive laboratory evolution; tpiA gene knockout; Mutation analysis; Multi-omics data integration; Systems biology; E. coli;
Adaptive laboratory evolution resolves energy depletion to maintain high aromatic metabolite phenotypes in Escherichia coli strains lacking the Phosphotransferase System
Keywords: تجزیه و تحلیل جهش; Adaptive laboratory evolution; Mutation analysis; Multi-omics analysis; Systems biology; E. coli; ptsH; ptsI; crr gene knockouts;
Integrated whole-genome and transcriptome sequence analysis reveals the genetic characteristics of a riboflavin-overproducing Bacillus subtilis
Keywords: تجزیه و تحلیل جهش; Bacillus subtilis; Riboflavin; Mutation analysis; Genome sequencing; Transcriptome analysis; Metabolic engineering;
SMARCA4-deficient thoracic sarcoma: report of a case and insights into how to reach the diagnosis using limited samples and resources
Keywords: تجزیه و تحلیل جهش; SMARCA4-deficient thoracic sarcoma; SWI/SNF complex; Rhabdoid cells; Immunohistochemistry; Mutation analysis;
KD-ART: Should we intensify or diversify tests to kill mutants?
Keywords: تجزیه و تحلیل جهش; Mutation analysis; Adaptive random testing; Intensification and diversification;
Copy number variation (CNV) analysis and mutation analysis of the 6q14.1-6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients
Keywords: تجزیه و تحلیل جهش; Prader Willi like; Obesity; MRAP2; SIM1; Microarray; Mutation analysis;
Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysisâ
Keywords: تجزیه و تحلیل جهش; MSUD; BCKDHA gene; Iran; Mutation analysis;
Principles of genetic variations and molecular diseases: applications in hemophilia A
Keywords: تجزیه و تحلیل جهش; Hemophilia A; Gene targeting; F8 gene mutations; Mutation analysis; CNV; Inversion; Molecular Biology methods;
Variants in TSPYL1 are not associated with sudden infant death syndrome in a cohort of deceased infants from Switzerland
Keywords: تجزیه و تحلیل جهش; TSPYL1; Mutation analysis; Genetic risk factors; SIDS
Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency
Keywords: تجزیه و تحلیل جهش; ER; endoplasmic reticulum; GSD-I; glycogen storage disease type I; G6Pase; glucose-6-phosphatase; G6P; glucose-6-phosphate; G6PT; glucose-6-phosphate transporter; GST; glutathione S-transferase; rAd; recombinant adenovirus; G6PC3; Mutation analysis; Recom
Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation
Keywords: تجزیه و تحلیل جهش; NBIA; neurodegeneration with brain iron accumulation; MPAN; mitochondrial membrane protein-associated neurodegeneration; BPAN; beta-propeller protein-associated neurodegeneration; PKAN; panthothenate kinase-associated neurodegeneration; PLAN; Phospholipas
Genetic and structural variation in the SH2B1 gene in the Belgian population
Keywords: تجزیه و تحلیل جهش; SH2B1; Obesity; Mutation analysis; CNV analysis
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–2014)
Keywords: تجزیه و تحلیل جهش; Biotinidase deficiency; Metabolic disease; Mutation analysis; Newborn screening; Biochemical phenotype-genotype associations
Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence?
Keywords: تجزیه و تحلیل جهش; hemophilia A; Factor VIII; Genetics of Thrombosis and Haemostasis; mutation analysis; microsatellites;
Potential Role for Targeted Therapy in Muscle-Invasive Bladder Cancer
Keywords: تجزیه و تحلیل جهش; Urothelial carcinoma; Whole-genome sequencing; Mutation analysis; Prognosis; Clinical trials; Targeted therapy;
El laboratorio en el diagnóstico de las enfermedades metabólicas hereditarias. Impacto de las nuevas tecnologÃas
Keywords: تجزیه و تحلیل جهش; Diagnóstico de laboratorio; Enfermedades metabólicas hereditarias; EspectrometrÃa de masas; Análisis de mutaciones; Secuenciación masiva; Laboratory diagnosis; Inherited metabolic diseases; Mass spectrometry; Mutation analysis; Next generation sequen
Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency
Keywords: تجزیه و تحلیل جهش; Mosaicism; Mutation analysis; PDHA1 gene; PDHc Deficiency
Mutation analysis of the IL36RN gene in Chinese patients with generalized pustular psoriasis with/without psoriasis vulgaris
Keywords: تجزیه و تحلیل جهش; Generalized pustular psoriasis (GPP); Psoriasis vulgaris (PV); GPP without psoriasis PV (GPP alone); GPP with preceding, later or accompanied by PV (GPP with PV); Interleukin 36 receptor antagonist (IL36RN); Mutation analysis
Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease
Keywords: تجزیه و تحلیل جهش; GAA; acid α-glucosidase; HRM; high resolution melting; DBS; dried blood spot; PCR; polymerase chain reaction; WCN; weighted contact number; DHPLC; denaturing high performance liquid chromatography; Acid α-glucosidase (GAA) gene; High resolution melting;
Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines
Keywords: تجزیه و تحلیل جهش; Congenital adrenal hyperplasia; CYP21A2; DNA sequence; Mutation analysis
Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis
Keywords: تجزیه و تحلیل جهش; LREIM; Laboratory of Inborn Errors of Metabolism; HCPA; Hospital de ClÃnicas de Porto Alegre; DNA; Deoxyribonucleic acid; SSCP; Single-stranded conformational polymorphism; PAGE; Polyacrilamide gel electrophoresis; SIFT; Sorting Intolerant from tolerant;
Reliability of EGFR and KRAS mutation analysis on fine-needle aspiration washing in non-small cell lung cancer
Keywords: تجزیه و تحلیل جهش; Non-small cell lung cancer; EGFR mutation; KRAS mutation; Cytology; Fine-needle aspiration; Mutation analysis;
Impaired CFTR function in mild cystic fibrosis associated with the S977F/T5TG12complex allele in trans with F508del mutation
Keywords: تجزیه و تحلیل جهش; Cystic fibrosis; Cystic fibrosis conductance transmembrane regulator; Mutation analysis; Nasal potential difference measurements;
Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence
Keywords: تجزیه و تحلیل جهش; μg/ml; micrograms per milliliters; μl; microliters; bp; base pairs; cDNA; DNA complementary to RNA; cm; centimeters; dbSNPs; Single Nucleotide Polymorphism Database; del; deletion; DMEM; Dulbecco's modified Eagle medium; GAGs; glycosaminoglycans; h; hou
Intratumoral heterogeneity of KRAS mutation is rare in non-small-cell lung cancer
Keywords: تجزیه و تحلیل جهش; KRAS; Non-small cell lung cancer; Heterogeneity; Mutation analysis;
DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients
Keywords: تجزیه و تحلیل جهش; DJ1; Early Onset Parkinson Disease; Mutation analysis;
Phenylalanine hydroxylase deficiency in the Slovak population: Genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness
Keywords: تجزیه و تحلیل جهش; BH4; tetrahydrobiopterin (6RL-erythro-5,6,7,8-tetrahydrobiopterin); Bp; base pairs; BIOPKUdb; International Database of Patients and Genotypes Causing HPA/PKU including BH4-responsive Phenotype; Conc.; concentration; cPKU; classic phenylketonuria; dNTP; d
The emerging role of mutational analysis in the management of gastrointestinal stromal tumour
Keywords: تجزیه و تحلیل جهش; GIST; KIT; mutation analysis; PDGFRA
A deletion mutation of the VHL gene associated with a patient with sporadic von Hippel-Lindau disease
Keywords: تجزیه و تحلیل جهش; Hemangioblastomas; Mutation analysis; Sporadic case; VHL gene; von Hippel-Lindau disease
Familial porphyria cutanea tarda in Spain: Characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation
Keywords: تجزیه و تحلیل جهش; UROD, uroporphyrinogen decarboxylase; PCT, porphyria cutanea tarda; F-PCT, familial porphyria cutanea tarda; S-PCT, sporadic porphyria cutanea tarda; HEP, hepatoerythropoietic porphyriaPorphyria; Uroporphyrinogen decarboxylase; Mutation analysis; Splicing
Sequence Variations in the von Hippel–Lindau Tumor Suppressor Gene in Patients with Intracranial Aneurysms
Keywords: تجزیه و تحلیل جهش; Intracranial aneurysm; mutation analysis; sequence variation; single nucleotide polymorphism; subarachnoid hemorrhage; von Hippel–Lindau
Pachyonychia congenita: Report of two cases and mutation analysis
Keywords: تجزیه و تحلیل جهش; KRT6A; KRT16; mutation analysis; pachyonychia congenita
Mutation analysis of RyR2 gene in patients after arrhythmic storm *
Keywords: تجزیه و تحلیل جهش; Sudden cardiac death; RyR2 gene; Arrhythmic storm; Mutation analysis
Phytohemagglutinin stimulation of lymphocytes improves mutation analysis of carbamoylphosphate synthetase 1
Keywords: تجزیه و تحلیل جهش; Carbamoylphosphate synthetase 1; Mutation analysis; Phytohemagglutinin; RNA; Transcript variants; Urea cycle;
Resequencing analysis of the candidate tyrosine kinase and RAS pathway gene families in multiple myeloma
Keywords: تجزیه و تحلیل جهش; Multiple myeloma; tyrosine kinase; RAS; resequencing; mutation analysis; cancer
Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility?
Keywords: تجزیه و تحلیل جهش; TSPYL1; mutation analysis; male idiopathic infertility