Keywords: جهش ژنی; DCM; dilated cardiomyopathy; FDCM; familial dilated cardiomyopathy; ECG; electrocardiogram; BP; blood pressure; R; rhythm; P; pulse; T; temperature; HR; heart rate; LAD; left atrium diameter; LVDD; left ventricle diastolic diameter; RAD; right atrium diam
مقالات ISI جهش ژنی (ترجمه نشده)
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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: جهش ژنی; Cancer screening; DNA testing; Genetic abnormalities; Genetic analysis; Gene mutation; Hereditary disorders; Prevention of genetic diseases; Primary care;
Keywords: جهش ژنی; Gene mutation; Nasal nitric oxide; Bronchiectasis; Chronic rhinosinusitis; Secretary otitis media;
Keywords: جهش ژنی; Acute myeloid leukemia; Gene mutation; Myeloperoxidase;
Keywords: جهش ژنی; Connexin40; Gene mutation; Atrial fibrillation; Cardiac electrophysiology;
Keywords: جهش ژنی; Colon cancer; Gene mutation; Genomic evolution; Liquid biopsy; Next-generation sequencing;
Keywords: جهش ژنی; Gene mutation; miRNAs; CirRNA; Atherosclerosis;
Keywords: جهش ژنی; Acute myeloid leukemia; Gene mutation; Next-generation sequencing;
Keywords: جهش ژنی; Familial hypercholesterolemia; Low-density lipoprotein cholesterol; Low-density lipoprotein receptor; Proprotein convertase subtilisin/kexin type 9; Apolipoprotein B-100; Gene mutation; DNA sequencing;
Keywords: جهش ژنی; Gene mutation; Induced pluripotent stem cell model; Inherited arrhythmia; Personalized medicine; AP; action potential; ARVC; arrhythmogenic right ventricular cardiomyopathy; BrS; Brugada syndrome; CPVT; catecholaminergic polymorphic ventricular tachycardi
Keywords: جهش ژنی; Sarcoma; Gene mutation; P53; RB; PI3K; IDH; Targeted therapy;
Keywords: جهش ژنی; Anemia; Iron; Congenital sideroblastic anemia; DMT1; Atransferrinemia; Aceruloplasminemia; Ferroportin; Matriptase; IRIDA; Gene mutation;
Keywords: جهش ژنی; Bone density; bone dysplasia; gene mutation; osteopathia striata with cranial sclerosis; pediatric; preadolescent;
Keywords: جهش ژنی; Cardiomyopathy; Arrhythmogenic; Gene mutation; Desmosome;
Keywords: جهش ژنی; Lung cancer; Gene mutation; Clonal expansion; Three-stage model; Chi-square test;
Keywords: جهش ژنی; Cataract; Markers; Gene mutation; Mechanism;
Keywords: جهش ژنی; Targeted therapy; Lung cancer; Gene mutation
Keywords: جهش ژنی; Embryonic heart development; Forkhead box (Fox, FOX) transcription factor; Gene mutation; Congenital heart disease (CHD)
Keywords: جهش ژنی; Circulating tumor cells; Tumor heterogeneity; Single cell sequencing; Tumor evolution; Gene mutation;
Keywords: جهش ژنی; Hypobetalipoproteinemia; Gene mutation; Angiotensin-like factor 3;
Keywords: جهش ژنی; Dysfibrinogenaemia; fibrinogen; gene mutation;
Keywords: جهش ژنی; Cancer treatment; Gene mutation; Network; Mutation frequency; CCA network; cancer gene network with co-occurring and anti-co-occurring mutations; COSMIC; the Catalogue of Somatic Mutations in Cancer;
Keywords: جهش ژنی; Pancreatic cancer; Metabolic tumor burden; Gene mutation; Serum tumor markers;
Keywords: جهش ژنی; Gene mutation; Tumor relapse; Drug resistance; Proteomics; MALDI-imaging; Mutation génétique; Rechute tumorale; Résistance aux médicaments; Protéomique; MALDI-TOF;
Keywords: جهش ژنی; Resistance to thyroid hormone; Thyroid hormone receptor; Gene mutation; Treatment strategies;
Keywords: جهش ژنی; ATP7B; Wilson disease; Gene mutation; Splice-site; Aberrant transcripts; Genotype; Phenotype
Keywords: جهش ژنی; Systemic primary carnitine deficiency; Carnitine transporter; Free carnitine; Gene mutation; SLC22A5C0, free carnitine; CDSP, systemic primary carnitine deficiency; MS/MS, tandem mass spectrometry; OCTN2, organic cation transporter 2
Keywords: جهش ژنی; Nonsyndromic hearing loss; GJB2; MT-RNR1; SLC26A4; Gene mutation;
Keywords: جهش ژنی; Pulmonary embolism; Factor V Leiden; Prothrombin G20210A; Methylenetetrahydrofolate reductase (MTHFR) C677T; Gene mutation
Keywords: جهش ژنی; Gene mutation; Keratin 13 (KRT13); Oral disease; Ubiquitination; White sponge nevus (WSN)
Keywords: جهش ژنی; Perry syndrome; DCTN1; Gene mutation; Respiratory insufficiency; Familial; Parkinsonism;
Keywords: جهش ژنی; Pneumonia; Mycoplasma pneumoniae; Macrolide resistance; 23s rRNA; Gene mutation;
Keywords: جهش ژنی; Oligodontia; MSX1; PAX9; AXIN2; Gene mutation; Polymorphism;
Keywords: جهش ژنی; Glycerolipid synthesis; Phosphatidic acid; Diacylglycerol; Gene family; Gene mutation; Lipodystrophy;
Co-occurrence of heterozygous CREB3L3 and APOA5 nonsense variants and polygenic risk in a patient with severe hypertriglyceridemia exacerbated by estrogen administration
Keywords: جهش ژنی; Hypertriglyceridemia; Pregnancy; In vitro fertilization; APOA5; CREB3L3; Estrogen; Eruptive xanthoma; Gene mutation;
First five generations Chinese family of tuberous scleroses complex due to a new mutation of the TSC1 gene
Keywords: جهش ژنی; Chinese family; Gene mutation; Tuberous scleroses complex-1 gene; Tuberous scleroses complex; Phenotype;
Are dopamine receptor and transporter changes in Rett syndrome reflected in Mecp2-deficient mice?
Keywords: جهش ژنی; Autoradiography; Binding potential; Gene mutation; Intellectual disability; Neurotransmitter; Nigrostriatal pathway; Postmortem; Positron emission tomography; Partial volume correction; Radioligand;
Dual gene deficient models of ApcMin/+ mouse in assessing molecular mechanisms of intestinal carcinogenesis
Keywords: جهش ژنی; ApcMin/+mice; Double gene deficiency; Gene mutation; Intestinal tumor; Mouse model;
Improved immune response against HIV-1 Env antigen by enhancing EEV production via a K151E mutation in the A34R gene of replication-competent vaccinia virus Tiantan
Keywords: جهش ژنی; HIV-1; Vaccine; Immune response; Gene mutation; Extracellular enveloped virus (EEV) formation;
Application of the gene editing tool, CRISPR-Cas9, for treating neurodegenerative diseases
Keywords: جهش ژنی; Genetic engineering; Gene mutation; Gene editing; DNA repair; Neurodegenerative diseases;
The role of heme iron molecules derived from red and processed meat in the pathogenesis of colorectal carcinoma
Keywords: جهش ژنی; Colorectal cancer; Carcinogenesis; Heme; Red meat; Processed meat; Cytotoxicity; Gene mutation; WNT;
Reversible MRI findings in a case of acute intermittent porphyria with a novel mutation in the porphobilinogen deaminase gene
Keywords: جهش ژنی; Acute porphyria; Posterior reversible encephalopathy syndrome; Gene mutation;
Identification of a novel and functional mutation in the TBX5 gene in a patient by screening from 354 patients with isolated ventricular septal defect
Keywords: جهش ژنی; Congenital heart disease; Ventricular septal defect; Gene mutation; Functional analysis;
Beta-adrenergic regulation of the heart expressing the Ser1700A/Thr1704A mutated Cav1.2 channel
Keywords: جهش ژنی; Heart; β-adrenergic regulation; Calcium channel; Cardiac Cav1.2; Gene mutation;
LINE-1 hypomethylation is associated to specific clinico-pathological features in Stage I non-small cell lung cancer
Keywords: جهش ژنی; Lung cancer; Early stage; Surgery; Gene mutation; LINE-1 hypomethylation; Prognostic factors;
Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa
Keywords: جهش ژنی; GSD; glycogen storage disease; PhK; phosphorylase kinase; XLG; X-linked liver glycogenosis; ALT; aminotransferase; AST; aspartate aminotransferase; CR; serum creatinine; TC; total cholesterol; TG; total triglyceride; CK; creatine kinase; NGS; next-generat
Prognostic impacts of EGFR mutation status and subtype in patients with surgically resected lung adenocarcinoma
Keywords: جهش ژنی; lung adenocarcinoma; epidermal growth facter receptor; gene mutation; prognosis; CEA; carcinoembryonic antigen; CI; confidence interval; CT; computed tomography; EGFR; epidermal growth factor receptor; MRI; magnetic resonance imaging; NSCLC; non-small c
Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families
Keywords: جهش ژنی; Müllerian aplasia; MRKH; reproductive genetics; congenital absence of the uterus and vagina; gene mutation;
DNAH1 gene mutations and their potential association with dysplasia of the sperm fibrous sheath and infertility in the Han Chinese population
Keywords: جهش ژنی; DNAH1; gene mutation; dysplasia of the sperm fibrous sheath; infertility; Han population;
Stargardt disease-associated mutation spectrum of a Russian Federation cohort
Keywords: جهش ژنی; Gene mutation; Genotype-phenotype correlation; Next-generation sequencing; Retinopathy; Retinal dystrophies; Stargardt disease;