دانلود مقالات ISI درباره فراوانی آللی جزئی + ترجمه فارسی

Identification of CDAN1, C15ORF41 and SEC23B mutations in Chinese patients affected by congenital dyserythropoietic anemia

Keywords: فراوانی آللی جزئی; CDA; congenital dyserythropoietic anaemias; PolyPhen; Polymorphism Phenotyping v2; SIFT; Sorting Intolerant From Tolerant; MAF; minor allele frequency; Provean; Protein Variation Effect Analyzer; ExAC; Exome Aggregation Consortium; SNP; single nucleotide

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2018 سفارش ترجمه

Association of genetic polymorphisms with erythrocyte traits: Verification of SNPs reported in a previous GWAS in a Japanese population

Keywords: فراوانی آللی جزئی; J-MICC; Japan Multi-Institutional Collaborative Cohort; SNP; single nucleotide polymorphism; GWAS; genome-wide association study; MAF; minor allele frequency; LD; linkage disequilibrium; RBC; red blood cell; Hb; hemoglobin; Ht; hematocrit; MCV; mean corpu

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2018 سفارش ترجمه

Polymorphisms of vitamin K-related genes (EPHX1 and VKORC1L1) and stable warfarin doses

Keywords: فراوانی آللی جزئی; ACE; angiotensin converting enzyme; ARB; angiotensin II receptor blocker; BMI; body mass index; CYP; cytochrome P 450; EPHX1; epoxide hydrolase 1; GGCX; γ-glutamyl carboxylase; INR; international normalized ratio; KH2; vitamin K hydroxyquinone; KO; vitam

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2018 سفارش ترجمه

Interleukin-10 rs1800871 (−819C/T) and ATA haplotype are associated with preeclampsia in a Tunisian population

Keywords: فراوانی آللی جزئی; Allele; Haplotype; Inflammation; Interleukin-10; Polymorphism; Preeclampsia; BMI; Body Mass Index; CI; confidence intervals; DBP; diastolic blood pressure; DNA; deoxyribonucleic acid; EDTA; Ethylenediaminetetraacetic acid; H; hour; HELLP; hemolysis, eleva

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2018 سفارش ترجمه

Vitamin D binding protein polymorphisms influence susceptibility to hepatitis C virus infection in a high-risk Chinese population

Keywords: فراوانی آللی جزئی; HCV; hepatitis C virus; WHO; World Health Organization; 1,25(OH)2D3; 1,25-dihydroxyvitamin D3; 25(OH)D; 25-hydroxyvitamin D; SVR; sustained viral response; VDBP; vitamin D binding protein; SNP; single nucleotide polymorphism; HD; hemodialysis; HIV; human

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2018 سفارش ترجمه

Genome-wide association study in ethnic Russians suggests an association of the MHC class III genomic region with the risk of primary varicose veins

Keywords: فراوانی آللی جزئی; CEAP; clinical severity, etiology, anatomy and pathophysiology classification system; CHARGE; cohorts for heart and aging research in genomic epidemiology consortium; GWAS; genome-wide association study; HEIDI; heterogeneity in dependent instruments metho

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2018 سفارش ترجمه

Evaluation of serum SLCO1B1 levels and genetic variants of SLCO1B1 rs4149056 and rs2306283 in patients with early and exudative age-related macular degeneration

Keywords: فراوانی آللی جزئی; AMD; age-related macular degeneration; AIC; Akaike Information Criteria; BrM; Bruch's membrane; CETP; cholesteryl ester transfer protein; GA; geographic atrophy; GWAS; genome-wide association studies; HDL; high-density lipoproteins; MAF; minor allele freq

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2018 سفارش ترجمه

Design of Arab Diabetes Gene-Centric Array (ADGCA) in population with an epidemic of Type 2 Diabetes: A population specific SNP evaluation

Keywords: فراوانی آللی جزئی; ADGCA; Arab Diabetes Gene Centric Array; AFR; African; ASW; African Ancestry in SW USA; Axiom_GW_Hu_SNP array; Axiom Genome-Wide Human SNP array; CEU; Europeans in Utah; CHB; Han Chinese; CNV; Copy number variation; EMBL-EBI; The European Bioinformatics I

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2018 سفارش ترجمه

Genetic polymorphisms are associated with exposure biomarkers for metals and persistent organic pollutants among Inuit from the Inuvialuit Settlement Region, Canada

Keywords: فراوانی آللی جزئی; Cd; Cadmium; DDE; Dichlorodiphenyldichloroethylene; Pb; Lead; Hg; Mercury; ISR; Inuvialuit Settlement Region; MAF; Minor allele frequency; PCB; Polychlorinated biphenyl; SNP; Single nucleotide polymorphism; Gene-environment; Exposure assessment; Biomarker

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2018 سفارش ترجمه

Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population

Keywords: فراوانی آللی جزئی; AD; autosomal dominant; AJ; Ashkenazi Jewish; AR; autosomal recessive; BCVA; best-corrected visual acuity; BSP; bone spicule; EOG; electro-oculography; ERG; electroretinography; FA; fluorescein angiography; FAF; fundus autofluorescence; FC; finger countin

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2018 سفارش ترجمه

Cardiac Genetic Predisposition in Sudden Infant Death Syndrome

Keywords: فراوانی آللی جزئی; genetic heart diseases; molecular autopsy; sudden infant death syndrome; whole exome sequencing; GHD; genetic heart disease; gnomAD; Genome Aggregation Database; LQTS; long QT syndrome; MAF; minor allele frequency; NSV; nonsynonymous variant; PCA; princip

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2018 سفارش ترجمه

Identification of stable QTLs for fiber quality and plant structure in Upland cotton (G. hirsutum L.) under drought stress

Keywords: فراوانی آللی جزئی; ADU; Agricultural Research Station of Adnan Menderes University; Am; association mapping; EAR; earliness; FDR; false discovery rate; FE; fiber elasticity; FF; fine fineness; FL; fiber length; FS; fiber strength; FU; fiber uniformity; GD; gene diversity; G

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2018 سفارش ترجمه

Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane

Keywords: فراوانی آللی جزئی; AMD; age-related macular degeneration; ARMS2; Age-Related Maculopathy Susceptibility 2; ANNOVAR; Annotate Variation; CADD; Combined Annotation Dependent Depletion; CFH; complement factor H; CFI; complement factor I; CMC; Combined Multivariate and Collaps

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2018 سفارش ترجمه

A 35.8 kilobases haplotype spanning ANKK1 and DRD2 is associated with heroin dependence in Han Chinese males

Keywords: فراوانی آللی جزئی; ANKK1; Ankyrin repeat and kinase domain containing 1; DRD2; Dopamine receptor D2; SNP(s); Single nucleotide polymorphism(s); HWE; Hardy-Weinberg equilibrium; OR(s); odds ratio(s); CI(s); confidence interval(s); MAF; minor allele frequency; n; number; Bal.

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2018 سفارش ترجمه

FAM13A is a modifier gene of cystic fibrosis lung phenotype regulating rhoa activity, actin cytoskeleton dynamics and epithelial-mesenchymal transition

Keywords: فراوانی آللی جزئی; CF; Cystic fibrosis; FAM13A; Family with sequence similarity 13 member A; COPD; Chronic obstructive pulmonary diseases; CFTR; CF transmembrane conductance regulator; GAP; GTPase activating protein; VEGAS; Versatile Gene Based Association Study; EMT; epith

دانلود رایگان متن کامل مقاله ISI 14 صفحه سال انتشار : 2018 سفارش ترجمه

Effects of UGT2B7, SCN1A and CYP3A4 on the therapeutic response of sodium valproate treatment in children with generalized seizures

Keywords: فراوانی آللی جزئی; VPA; sodium valproate; FABP2; fatty acid binding protein 2; ABCB1; ATP binding cassette subfamily B member 1; ABCC2; ATP binding cassette subfamily C member 2; GABA; gamma-aminobutyric acid; ABAT; 4-aminobutyrate aminotransferase; GABR; GABA receptor; SCN

دانلود رایگان متن کامل مقاله ISI 16 صفحه سال انتشار : 2018 سفارش ترجمه

Contribution of microRNA-149, microRNA-146a, and microRNA-196a2 SNPs in colorectal cancer risk and clinicopathological features in Tunisia

Keywords: فراوانی آللی جزئی; BMI; Body Mass Index; CAD; Cardiac Arterial Disease; CEU; Utah residents with Northern and Western European ancestry; CRC; Colorectal cancer; DM; Distant Metastasis; DMSO; dimethylsulfoxide; DNA; deoxyribonucleic acid; dNTP; deoxyribonucleotide triphospha

دانلود رایگان متن کامل مقاله ISI 16 صفحه سال انتشار : 2018 سفارش ترجمه

CR1 gene polymorphisms in Chinese patients with paroxysmal nocturnal hemoglobinuria

Keywords: فراوانی آللی جزئی; PNH; paroxysmal nocturnal hemoglobinuria; MAF; minor allele frequency; GPI; glycosylphosphatidylinositol; LDH; lactate dehydrogenase; AA; aplastic anemia; CR; complement receptor; PIGA; phosphatidylinositol glycan class A; FLAER; fluorescent aerolysin; HW

دانلود رایگان متن کامل مقاله ISI 21 صفحه سال انتشار : 2018 سفارش ترجمه

Variants of TLR1 associated with tuberculosis susceptibility in the Chinese Tibetan population but not in Han Chinese

Keywords: فراوانی آللی جزئی; TB; tuberculosis; MTB; mycobacterium tuberculosis; LTBI; latent tuberculosis infection; TLR; Toll-like receptor; TIR; Toll/IL-1 receptor; TLR1; toll like receptor 1; PTB; pulmonary tuberculosis; SNPs; single nucleotide polymorphisms; HC; healthy controls;

دانلود رایگان متن کامل مقاله ISI 21 صفحه سال انتشار : 2018 سفارش ترجمه

Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings

Keywords: فراوانی آللی جزئی; CDGP; constitutional delay of growth and puberty; CHO; Chinese hamster ovary; E2; estradiol; ER; endoplasmic reticulum; FSH; follicle-stimulating hormone; GnRH; gonadotropin-releasing hormone; HEK; human embryonic kidney; H-P-G axis; hypothalamic-pituit

دانلود رایگان متن کامل مقاله ISI 23 صفحه سال انتشار : 2018 سفارش ترجمه

Amino acid 118 in the deafness causing (DFNA20/26) ACTG1 gene is a mutational hot spot

Keywords: فراوانی آللی جزئی; ACTG1; Actin gamma 1; DFNA; Autosomal dominant; NSHL; Non-syndromic hearing loss; ADSNHL; Autosomal dominant sensorineural non syndromic hearing loss; NGS; Next-generation sequencing; ABR; Auditory brainstem response; PTA; Pure-tone audiometry; MAF; Minor

دانلود رایگان متن کامل مقاله ISI 24 صفحه سال انتشار : 2018 سفارش ترجمه

Novel SNPs of WNK1 and AKR1C3 are associated with preeclampsia

Keywords: فراوانی آللی جزئی; WNK1; lysine deficient protein kinase 1; ADRB2; β2 adrenergic receptor; NEDD4L; ubiquitin-protein ligase NEDD4-like; KLK1; kallikrein 1; AKR1C3; aldo-keto reductase family1 member C3; SNPs; single nucleotide polymorphisms; CI; confidence interval; OR; od

دانلود رایگان متن کامل مقاله ISI 25 صفحه سال انتشار : 2018 سفارش ترجمه

Amino Acid Variants of HLA-DRB1 Confer Susceptibility to Dapsone Hypersensitivity Syndrome in Addition to HLA-B*13:01

Keywords: فراوانی آللی جزئی; AA; amino acid; DDS; dapsone; DHS; dapsone hypersensitivity syndrome; LD; linkage disequilibrium; MAF; minor allele frequency; NGS; next-generation sequencing; OR; odds ratio; PPV; positive predictive value;

دانلود رایگان متن کامل مقاله ISI 26 صفحه سال انتشار : 2018 سفارش ترجمه

A pilot Indian family-based association study between dyslexia and Reelin pathway genes, DCDC2 and ROBO1, identifies modest association with a triallelic unit TAT in the gene RELN

Keywords: فراوانی آللی جزئی; DSM-IV; Diagnostic and Statistical Manual IV; GIH; Gujarati Indians in Houston; BEB; Bengali; ITU; Indian Telugu from the UK; PJL; Punjabi from Lahore, Pakistan; HBAT; Haplotype Based Association Test; FBAT; Family Based Association Test; LD; linkage dise

دانلود رایگان متن کامل مقاله ISI 27 صفحه سال انتشار : 2018 سفارش ترجمه

Identification of LBX2 as a novel causal gene of atrial septal defect

Keywords: فراوانی آللی جزئی; ASD; atrial septal defect; GWAS; genome-wide association study; Lbx; ladybird homeobox; MAF; minor allele frequency; TFs; transcription factors; Atrial septal defect; LBX2; Neural crest cells; Whole exome sequencing;

دانلود رایگان متن کامل مقاله ISI 27 صفحه سال انتشار : 2018 سفارش ترجمه

Exome sequencing of a large family identifies potential candidate genes contributing risk to bipolar disorder

Keywords: فراوانی آللی جزئی; BPD; bipolar disorder; GWAS; genome-wide association study; LD; linkage disequilibrium; MAF; minor allele frequency; QC; quality control; SNPs; single nucleotide polymorphisms; SNVs; single nucleotide variants; VQSR; variant quality score recalibration; B

دانلود رایگان متن کامل مقاله ISI 28 صفحه سال انتشار : 2018 سفارش ترجمه

Variants at HLA-A, HLA-C, and HLA-DQB1 Confer Risk of Psoriasis Vulgaris in Japanese

Keywords: فراوانی آللی جزئی; CI; confidence interval; GWAS; genome-wide association study; MAF; minor allele frequency; MHC; major histocompatibility complex; OR; odds ratio; PsV; psoriasis vulgaris; QC; quality control; SNP; single nucleotide polymorphism;

دانلود رایگان متن کامل مقاله ISI 29 صفحه سال انتشار : 2018 سفارش ترجمه

Assessment of DNA repair susceptibility genes identified by whole exome sequencing in head and neck cancer

Keywords: فراوانی آللی جزئی; AAS; Amino Acid Substitution; BAM; Binary Alignment Map; BER; Base Excision Repair; CI; Confidence Interval; CVC; Cross Validation Consistency; dbSNP; Single Nucleotide Polymorphism database; DDG; The predicted free energy change value; DSBR; Double Stran

دانلود رایگان متن کامل مقاله ISI 31 صفحه سال انتشار : 2018 سفارش ترجمه

Influence of polymorphisms in toll-like receptors (TLRs) on malaria susceptibility in low-endemic area of the Atlantic Forest, São Paulo, Brazil

Keywords: فراوانی آللی جزئی; TLR; toll like receptor; SNPs; single nucleotide polymorphisms; LD; linkage disequilibrium; MAF; minor allele frequency; CSP; circumsporozoite surface protein; MSP; merozoite surface protein; RFLP; restriction fragment length polymorphism; ELISA; enzyme-l

دانلود رایگان متن کامل مقاله ISI 32 صفحه سال انتشار : 2018 سفارش ترجمه

The functional polymorphisms of ARID5B and IKZF1 are associated with acute myeloid leukemia risk in a Han Chinese population

Keywords: فراوانی آللی جزئی; ALL; acute lymphoblastic leukemia; AML; acute myeloid leukemia; GWAS; genome-wide association study; 3′UTR; 3′ untranslated region; IKZF1; IKAROS family zinc finger 1 (Ikaros); ARID5B; AT rich interactive domain 5B (MRF1-like); HSCs; hematopoietic ste

دانلود رایگان متن کامل مقاله ISI 32 صفحه سال انتشار : 2018 سفارش ترجمه

Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer

Keywords: فراوانی آللی جزئی; Colon Cancer; Familial Colorectal Cancer; Protein Translation; Mechanism; CRC; colorectal cancer; LOH; loss of heterozygosity; MAF; minor allele frequency; miRNA; microRNA; MMR; DNA mismatch repair; PBS; phosphate-buffered saline; PCR; polymerase chain re

دانلود رایگان متن کامل مقاله ISI 34 صفحه سال انتشار : 2018 سفارش ترجمه

Association of rs2271037 and rs3749585 polymorphisms in CORIN with susceptibility to hypertension in a Chinese Han population: A case-control study

Keywords: فراوانی آللی جزئی; SNPs; single nucleotide polymorphisms; NPs; natriuretic peptides; ANP; atrial natriuretic peptide; miR; microRNA; UTR; untranslated region; BP; blood pressure; SBP; systolic blood pressure; DBP; diastolic blood pressure; PCR; polymerase chain reaction; HR

دانلود رایگان متن کامل مقاله ISI 36 صفحه سال انتشار : 2018 سفارش ترجمه

The genetic architecture of long QT syndrome: A critical reappraisal

Keywords: فراوانی آللی جزئی; Arrhythmia; Genetic testing; Genetic variation; Long QT syndrome; Sudden cardiac death; ABS; ankyrin-B syndrome; ACMG; American College of Medical Genetics and Genomics; aLQTS; acquired/drug-induced LQTS; AMP; Association for Molecular Pathology; Ca2+; ca

دانلود رایگان متن کامل مقاله ISI 43 صفحه سال انتشار : 2018 سفارش ترجمه

Association between single nucleotide polymorphisms in TLR4, TLR2, TLR9, VDR, NOS2 and CCL5 genes with acute viral bronchiolitis

Keywords: فراوانی آللی جزئی; CCL5; C-C motif chemokine ligand 5; eNOS; endothelial NOS; HWE; Hardy-Weinberg equilibrium; ICU; intensive care unit; IFNA5; interferon alpha 5; iNOS; inducible NOS; JUN; Jun proto-oncogene, AP-1 transcription factor subunit; LPS; lipopolysaccharide; MAF;

دانلود رایگان متن کامل مقاله ISI 49 صفحه سال انتشار : 2018 سفارش ترجمه

Genome-wide association study and meta-analysis in multiple populations identifies new loci for peanut allergy and establishes C11orf30/EMSY as a genetic risk factor for food allergy

Keywords: فراوانی آللی جزئی; Peanut allergy; food allergy; genome-wide association study; meta-analysis; EMSY; C11orf30; epigenetics; ANGPT4; Angiopoietin 4; ARHGAP24; Rho GTPase-activating protein 24; CanPAR; Canadian Peanut Allergy Registry; CFA; Chicago Food Allergy; CHCHD3; Coi

دانلود رایگان متن کامل مقاله ISI 51 صفحه سال انتشار : 2018 سفارش ترجمه

Evaluation of the relationship between CD36 and MARCO single-nucleotide polymorphisms and susceptibility to carotid atherosclerosis in a Chinese Han population

Keywords: فراوانی آللی جزئی; SR; scavenger receptors; MARCO; macrophage receptor with collagenous structure; CD36; cluster of differentiation 36; CAS; carotid atherosclerosis; sCD36; a soluble component of CD36 in blood; SNP; single nucleotide polymorphism; MAF; minor allele frequenc

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2017 سفارش ترجمه

Short communicationIdentification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome

Keywords: فراوانی آللی جزئی; COX; cytochrome c oxidase; FASTKD2; FAS-activated serine-threonine kinase domain 2; GERP; genomic evolutionary rate profiling; GTC; generalized tonic-clonic seizure; HE; hematoxylin-eosin; MAF; minor allele frequency; mGT; modified Gomori trichrome; MELAS

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2017 سفارش ترجمه

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction

Keywords: فراوانی آللی جزئی; ACMG; American College of Medical Genetics and Genomics; ALT; Alanine aminotransferase; CADD; Combined Annotation Dependent Depletion; MAF; Minor allele frequency; OAA; Oxaloacetate; PC; Pyruvate carboxylase; PEP; Phosphoenolpyruvate; PEPCK; Phosphoenolpy

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2017 سفارش ترجمه

The role of RAS mutations in MLL-rearranged leukaemia: A path to intervention?

Keywords: فراوانی آللی جزئی; ALL; acute lymphoblastic leukaemia; iALL; infant ALL; MLL; myeloid/lymphoid leukaemia or mixed lineage leukaemia, also known as KMT2A; RAS; rat sarcoma; BCP-ALL; B-cell precursor ALL; EFS; event-free survival; OS; overall survival; WBC; white blood cell c

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2017 سفارش ترجمه

Intergenic variants may predispose to major depression disorder through regulation of long non-coding RNA expression

Keywords: فراوانی آللی جزئی; GWA studies; genome-wide association studies; SNP; single nucleotide polymorphism; MDD; major depressive disorder; TAS; trait/disease-associated SNP; lncRNA; long noncoding RNA; DSM-IV; Diagnostic and Statistical Manual of Mental Disorders Fourth Edition;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2017 سفارش ترجمه

Research ArticleGenetic variation in SLC7A2 interacts with calcium and magnesium intakes in modulating the risk of colorectal polyps

Keywords: فراوانی آللی جزئی; CATs; cationic amino acid transporters; FFQ; food frequency questionnaire; MAF; minor allele frequency; SLC7A2; solute carrier family 7, member 2; SNP; single-nucleotide polymorphism; TCPS; the Tennessee Colorectal Polyps Study; SLC7A2; Colorectal polyps;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2017 سفارش ترجمه

Evaluation of the Myocilin Mutation Gln368Stop Demonstrates Reduced Penetrance for Glaucoma in European Populations

Keywords: فراوانی آللی جزئی; CI; confidence interval; GVFL; glaucomatous visual field loss; IOP; intraocular pressure; JOAG; juvenile open-angle glaucoma; MAF; minor allele frequency; MYOC; myocilin gene; OMIM; Online Mendelian Inheritance in Man; OR; odds ratio; POAG; primary open-a

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2017 سفارش ترجمه

The effects of TLR3, TRIF and TRAF3 SNPs and interactions with environmental factors on type 2 diabetes mellitus and vascular complications in a Han Chinese population

Keywords: فراوانی آللی جزئی; TLR3; toll-like receptor 3; TRIF; TIR-domain-containing adapter-inducing interferon-β; TRAF3; tumor necrosis factor receptor-associated factor 3; IFN-β; type I interferon -β; NF-κB; nuclear factor-κB; IRF-3/7; interferon regulatory factor 3/7; SN

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2017 سفارش ترجمه

Exome array analysis suggests an increased variant burden in families with schizophrenia

Keywords: فراوانی آللی جزئی; SNP; single nucleotide polymorphism; WAFSS; Western Australian Family Study of Schizophrenia FDR false discovery rate; ECM; extracellular matrix; CNV; copy number variants; GWAS; genome wide association study; MAF; minor allele frequency; PCA; principal c

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2017 سفارش ترجمه

The HRH4 rs11662595 mutation is associated with histamine H4 receptor dysfunction and with increased epithelial-to-mesenchymal transition progress in non-small cell lung cancer

Keywords: فراوانی آللی جزئی; CI; confidential interval; EMT; epithelial-to-mesenchymal transition; HR; hazard ratio; HRH4; histamine H4 receptor; MAF; minor allele frequency; NSCLC; Non-small cell lung cancer; OS; overall survival; PFS; progression-free survival; SNP; single-nucleoti

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2017 سفارش ترجمه

High resolution HLA haplotyping by imputation for a British population bioresource

Keywords: فراوانی آللی جزئی; AFND; Allele Frequencies Net Database; LD; linkage disequilibrium; MAF; minor allele frequency; OBB; Oxford Biobank; PCA; principal components analysis; SNP; single nucleotide polymorphism; HLA; Allele; Imputation; Genotype; Single nucleotide polymorphism

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2017 سفارش ترجمه

Original Research ArticleUltra-deep next generation mitochondrial genome sequencing reveals widespread heteroplasmy in Chinese hamster ovary cells

Keywords: فراوانی آللی جزئی; CHO; Chinese hamster ovary; MFA; Metabolic flux analysis; OXPHOS; Oxidative phosphorylation; nDNA; nuclear DNA; mtDNA; mitochondrial DNA; D-loop; displacement loop; ROS; reactive oxygen species; MAF; minor allele frequency; NumtS; nuclear encoded mitochon

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2017 سفارش ترجمه

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome

Keywords: فراوانی آللی جزئی; cardiomyopathy; channelopathy; molecular autopsy; next-generation sequencing; unexplained sudden death; ACM; arrhythmogenic cardiomyopathy; ACMG; American College of Medical Genetics; BrS; Brugada syndrome; CPVT; catecholaminergic polymorphic ventricular

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2017 سفارش ترجمه

HLA-E regulatory and coding region variability and haplotypes in a Brazilian population sample

Keywords: فراوانی آللی جزئی; HLA-E, 3′ untranslated region; Promoter; Variability; Next generation sequencing; Polymorphism; ABC MRP7; ATP-binding cassette transporter multidrug resistance associated protein; bp; Base pairs; DNA; Deoxyribonucleic acid; EBV; Epstein-Barr virus; HCMV

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2017 سفارش ترجمه

The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome

Keywords: فراوانی آللی جزئی; channelopathy; genetics; short QT syndrome; sudden cardiac death; therapy; AF; atrial fibrillation; AP; action potential; ECG; electrocardiogram; ER; early repolarization; GWAS; genome-wide association studies; ICD; implantable cardioverter-defibrillator;

دانلود رایگان متن کامل مقاله ISI 17 صفحه سال انتشار : 2017 سفارش ترجمه