دانلود مقالات ISI درباره Dbsnp + ترجمه فارسی

ژن های متابولیزه کننده دیوکسین در ارتباط با اثرات سطوح دیوکسین قبل از تولد و کاهش اندازه تولد: مطالعه هوکایدو

Dioxin-metabolizing genes in relation to effects of prenatal dioxin levels and reduced birth size: The Hokkaido study

Keywords: AHR; aromatic hydrocarbon receptor; CYP; cytochrome P450; CYP1A1; cytochrome P450 1A1; dbSNP; database single nucleotide polymorphism; GSTM1; glutathione S-transferase mu 1; HRGC/HRMS; high-resolution gas chromatography/high-resolution mass spectrometry;

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

تجزیه و تحلیل محاسباتی، پلیمورفیسم تک نوکلئوتونی مخرب جدید را در ناحیه غیرمنتظره ژن کاورولین انسان

Computational analysis unravels novel destructive single nucleotide polymorphisms in the non-synonymous region of human caveolin gene

Keywords: SNP; Single nuncleotide polymorphism; nsSNP; non-synonymous single nucleotide polymorphism; Cav; caveolin; IGFBP-5; insulin-like growth factor binding protein-5; CKD; chronic kidney diseases; iNOS; inducible nitric oxide synthase; HIF-1α; hypoxia inducib

دانلود رایگان متن کامل مقاله ISI 16 صفحه سال انتشار : 2017 سفارش ترجمه

Early-onset epileptic encephalopathy with de novo SCN8A mutation

Keywords: SCN8A; The inactivation gate; Early-onset epileptic encephalopathies; SUDEP; BFIS; benign familial infantile seizures; dbSNP; single nucleotide polymorphism database; DQ; development quotient; ECG; electrocardiogram; EE; epileptic encephalopathies; EEG; e

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2018 سفارش ترجمه

TDRD6 is associated with oligoasthenoteratozoospermia by sequencing the patient from a consanguineous family

Keywords: OAT; oligoasthenoteratozoospermia; WES; whole-exome sequencing; ICSI; intracytoplasmic sperm injection; IVF; in vitro fertilization; ExAC; Exome Aggregation Consortium; gnomAD; genome Aggregation Database; dbSNP; Short Genetic Variations database; 1000G;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2018 سفارش ترجمه

Functional analysis of a novel ENG variant in a patient with hereditary hemorrhagic telangiectasia (HHT) identifies a new Sp1 binding-site

Keywords: Ab; antibody; ACTB; β-actin; ACVRL1; Activin A Receptor type II-Like Kinase 1; AVM; ArterioVenous Malformation; BMP; Bone Morphogenetic Protein; BMPR2; Bone Morphogenetic Protein Receptor Type 2; CAVM; Cerebral ArterioVenous Malformation; CTRL; control;

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

“The devil's in the detail”: Release of an expanded, enhanced and dynamically revised forensic STR Sequence Guide

Keywords: Massively parallel sequencing MPS; Short tandem repeat STR; Indels; SNPs; dbSNP; Sequence alignment;

دانلود رایگان متن کامل مقاله ISI 22 صفحه سال انتشار : 2018 سفارش ترجمه

Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene

Keywords: ADPKD; Autosomal Dominant Polycystic Kidney Disease; ESRD; end-stage renal disease; Leucine-rich LRR; leucine rich repeat; WSC; cell wall integrity and stress response component; LDL-A; low density lipoprotein-A; IG-Like; immunoglobulin-like; REJ; recepto

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

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

Keywords: 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

Experimental assessment of novel PAX6 splicing mutations in two Chinese families with aniridia

Keywords: PAX6; paired box gene 6; bp; base pair(s); del; delete; ins; insert; WAGR; Wilms tumor, aniridia, genitourinary anomalies and mental retardation; PD; paired domain; HD; homeodomain; PST; proline/serine/threonine-rich; PCR; polymerase chain reaction; NCBI;

دانلود رایگان متن کامل مقاله ISI 19 صفحه سال انتشار : 2017 سفارش ترجمه

Genetic variants of the DNA repair genes from Exome Aggregation Consortium (EXAC) database: significance in cancer

Keywords: AP; Apurinic/Apyrimidinic; BER; Base excision repair; dbSNP; Single Nucleotide Polymorphism database; DNA; Deoxyribonucleic acid; DSB; Double-strand break; ExAC; Exome Aggregation Consortium; FA; ;Fanconi Anemia; GGR; Global Genomic Repair; GWAS; Genome W

دانلود رایگان متن کامل مقاله ISI 26 صفحه سال انتشار : 2017 سفارش ترجمه

Characterization of additional vitamin D binding protein variants

Keywords: DBP; vitamin D binding protein; DHPLC; denaturing high performance liquid chromatography; GC; group specific component; dbSNP; single nucleotide polymorphism database; 25OHD; 25-hydroxyvitamin D; LC-ESI-TOF-MS; liquid chromatography-electrospray ionizatio

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2016 سفارش ترجمه

Combined effects of AHR, CYP1A1, and XRCC1 genotypes and prenatal maternal smoking on infant birth size: Biomarker assessment in the Hokkaido Study

Keywords: AHR; aromatic hydrocarbon receptor; BP; benzo[a]pyrene; BPDE; benzo[a]pyrene 7,8-diol oxide; CI; confidence interval; CYP; cytochrome P450; dbSNP; database single nucleotide polymorphism; GST; glutathione S-transferase; PAH; polycyclic aromatic hydrocarbo

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2016 سفارش ترجمه

Association of the MTHFR rs1801131 and rs1801133 variants in sporadic Parkinson's disease patients

Keywords: PD; Parkinson's disease; MAPT; the microtubule-associated protein tau gene; GBA; the glucocerebrosidase gene; SMPD1; the sphingomyelin phosphodiesterase 1, ​acid lysosomal gene; MTHFR; the methylenetetrahydrofolate reductase gene; dbSNP; database of s

دانلود رایگان متن کامل مقاله ISI 21 صفحه سال انتشار : 2016 سفارش ترجمه

Identification of functional SNPs in PAX3 gene and in silico analysis of damaging SNPs in relation to neural tube defect

Keywords: Neural tube defect; paired box gene 3; mutation; gene; PAX; paired box; dbSNP; database single nucleotide polymorphism; nsSNP; non synonymous single nucleotide polymorphism;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

Association of Toll-like receptor 2 Arg753Gln and Toll-like receptor 1 Ile602Ser single-nucleotide polymorphisms with leptospirosis in an argentine population

Keywords: A allele; adenine allele; Arg753Gln; arginine to glutamine substitution at position 753; CI; confidence interval; dbSNP; single nucleotide polymorphism database at the National Center for Biotechnology Information (NCBI); G allele; guanine allele; HWE; Ha

دانلود رایگان متن کامل مقاله ISI 35 صفحه سال انتشار : 2015 سفارش ترجمه

A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis

Keywords: CHD; congenital heart defects; PS; pulmonary valve stenosis; polyphen2; polymorphism phenotyping; SIFT; Sorting Intolerant From Tolerant; dbSNP; Single Nucleotide Polymorphism Database; ASD; atrial septal defect; VSD; ventricular septal defect; TOF; tetra

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2014 سفارش ترجمه

Challenges in assessing pathogenicity based on frequency of variants in mismatch repair genes: an extreme case of a MSH2 variant and a meta-analysis

Keywords: dbSNP; Single Nucleotide Polymorphism database; InSiGHT; International Society for Gastrointestinal Hereditary Tumours; LOVD; Leiden Open Variation Database; MMR; mismatch repair; MAF; minor allele frequency; VUS; variant of uncertain significance; Lynch

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2014 سفارش ترجمه

DR-GAS: A database of functional genetic variants and their phosphorylation states in human DNA repair systems

Keywords: GAS; Haplotype; nsSNP; LD; Phosphorylation; BER; base excision repair; NER; nucleotide excision repair; MMR; mismatch repair; HRR; homologous recombination repair; NHEJ; non-homologous end joining; TLS; trans lesion synthesis; DDS; DNA damage signaling; H

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2014 سفارش ترجمه

Single nucleotide polymorphism in CPT1B and CPT2 genes and its association with blood carnitine levels in acute myocardial infarction patients

Keywords: AMI; acute myocardial infarction; BMI; body mass index; CAD; coronary artery disease; CoA; coenzyme A; CPT1B; carnitine palmitoyltransferase IB; CPT2; carnitine palmitoyltransferase II; dbSNP; database of single nucleotide polymorphism; DNA; deoxyribonucl

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2013 سفارش ترجمه

Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment

Keywords: AbfB, Alpha-l-arabinofuranosidaseB-like domain; ABRs, Auditory brainstem responses; ACPTA, Air conduction pure-tone average; bp, Base pair; C8, Cysteine-rich domain; CT, C-terminal cystine knot domain; CT scan, Computed tomography scan; dB, decibel; dBSNP

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2013 سفارش ترجمه

Ewing's sarcoma: Analysis of single nucleotide polymorphism in the EWS gene

Keywords: °C; Degrees Celsius; dbSNP; SNP DataBase; DSB; Double-strand break; DNA; Deoxyribonucleic acid; ERG; Ets Related Gene; ETS; E-twenty six; EWS; Ewing sarcoma breakpoint region 1; FLI1; Friend leukemia virus integration 1; HCPA; UFRGS university hospital;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2012 سفارش ترجمه

Hematopoietic prostaglandin D synthase (HPGDS): A high stability, Val187Ile isoenzyme common among African Americans and its relationship to risk for colorectal cancer

Keywords: Apc; adenomatous polyposis coli; CDNB; 1-chloro-2,4-dinitrobenzene; CI; confidence interval; dbSNP; the National Center for Biotechnology Information database for single nucleotide polymorphisms; HPGDS; hematopoietic prostaglandin D synthase; Min; a mouse

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2012 سفارش ترجمه

Computational prediction of the effects of non-synonymous single nucleotide polymorphisms in human DNA repair genes

Keywords: SNP; non-synonymous; dbSNP; phenotypic effects; BER; base excision repair; BLAST; Basic Local Alignment Search Tool; cSNP; coding single nucleotide polymorphism (SNP in protein-coding region); dbSNP; public database of human single nucleotide polymorphism

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2007 سفارش ترجمه

Characterization of frequencies and distribution of single nucleotide insertions/deletions in the human genome

Keywords: dbSNP; Single Nucleotide Polymorphism database; LINE; Long interspersed element; NCBI; National Center for Biotechnology Information; SNindel; Single nucleotide insertion/deletion; SINE; Short interspersed element.; dbSNP; Insertions/deletions; Density; M

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2006 سفارش ترجمه