دانلود مقالات ISI درباره پلی فن-2 + ترجمه فارسی

مطالعه بررسی: تکنیک های محاسباتی برای انتظار تاثیر منافع تک نوکلئوتیدی غیرمنتظره در بیماری های انسانی

A review study: Computational techniques for expecting the impact of non-synonymous single nucleotide variants in human diseases

Keywords: پلی فن-2; Abbreviation; Annotation; nsSNVs; Non-Synonymous Single-Nucleotide Variants; MLTs; Machine Learning Techniques; SVM; Support Vector Machine; RF; Random Forest; ANN; Artificial Neural Network; SDM; Site-Directed Mutate; APOGEE; The pathogenicity Prediction

دانلود رایگان متن کامل مقاله ISI 14 صفحه سال انتشار : 2019 سفارش ترجمه

آنالیز مولکولی ژن های سارکوئیک و غیر سارکوئیک در بیماران مبتلا به کراتومیوپاتی هیپرتروفی

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy

Keywords: پلی فن-2; HCM; hypertrophic cardiomyopathy; DCM; dilatative cardiomyopathy; RCM; restrictive cardiomyopathy; ARVC; arrhythmogenic right ventricular cardiomyopathy; NGS; next generation sequencing; NsSNV; non-synonymous single nucleotide variant; ECG; electrocardiog

دانلود رایگان متن کامل مقاله ISI 29 صفحه سال انتشار : 2016 سفارش ترجمه

A novel p.L216I mutation in the glucocerebrosidase gene is associated with Parkinson's disease in Han Chinese patients

Keywords: پلی فن-2; PD; Parkinson's disease; GBA; glucocerebrosidase gene; PolyPhen-2; polymorphism phenotyping v2; dbSNP 142; single nucleotide polymorphism database 142; ExAC; Exome Aggregation Consortium database; L-DOPA; L-3,4-dihydroxyphenylalanine; SIFT; Sorting Into

دانلود رایگان متن کامل مقاله ISI 18 صفحه سال انتشار : 2018 سفارش ترجمه

Computational analysis of deleterious SNPs of SLC45A2 involved in oculocutaneous albinism type 4

Keywords: پلی فن-2; SNP; Single nucleotide polymorphism; SLC45A2; Solute carrier family 45, member 2; OCA4; Oculocutaneous albinism Type 4; nsSNP; Non-synonymous single nucleotide polymorphism; OA; Ocular albinism; TYR; Tyrosinase; TYRP1; Tyrosinase related protein 1; MATP;

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

Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease

Keywords: پلی فن-2; MPS IVA; Mucopolysaccharidosis type 4 -A; GALNS; N-acetylgalactosamine-6-sulfatase; GAGs; Glycosaminoglycans; NRC; National Research Centre; MPSs; Mucopolysaccharidoses; GLB1; β-Galactosidase; KS; Keratan Sulfate; C6S; Chondroitin-6-Sulfate; kDa; Kilo

دانلود رایگان متن کامل مقاله ISI 21 صفحه سال انتشار : 2017 سفارش ترجمه

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

Keywords: پلی فن-2; 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

Genetic analysis of TREM2 variants in Chinese Han patients with sporadic Parkinson's disease

Keywords: پلی فن-2; PD; Parkinson's disease; AD; Alzheimer's disease; TREM2; the triggering receptor expressed on myeloid cells 2 gene; VPS35; the vacuolar protein sorting 35 gene; EIF4G1; the eukaryotic translation initiation factor 4-gamma 1 gene; S100B; the S100 calci

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2016 سفارش ترجمه

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

Keywords: پلی فن-2; 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

Apolipoprotein E genotyping in women with recurrent pregnancy loss: An in silico and experimental hybrid study

Keywords: پلی فن-2; RPL, recurrent pregnancy loss; Apo E, apolipoprotein E; PolyPhen, Polymorphism Phenotyping; OR, odds ratio; CI, confidence intervalApolipoprotein E; Apo E ε4 carriers; Recurrent pregnancy loss; PolyPhen-2

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

GJB2-associated hearing loss undetected by hearing screening of newborns

Keywords: پلی فن-2; AABR; automated auditory brainstem response; ABR; auditory brainstem-evoked response; AOAE; automated otoacoustic emissions; Cx26; connexin 26; HI; hearing impairment; I/I; biallelic inactivating; I/NI; compound heterozygous inactivating/non-inactivating;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2013 سفارش ترجمه

Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America

Keywords: پلی فن-2; CB; curvilinear body; DBS; dried blood spot; FP; fingerprint profile; GROD; granular osmiophilic deposit; J-NCL; juvenile NCL; LD; lysosomal disorder; LI-NCL; late-infantile NCL; NCLs; neuronal ceroid lipofuscinoses; PDB; protein data bank; PolyPhen-2; po

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2013 سفارش ترجمه