دانلود مقالات ISI درباره پلیفن + ترجمه فارسی

توالی آمیزشی کامل بیماران پراکنده با سندرم خرچنگ: گزارش سه

Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios

Keywords: پلیفن; CS; Currarino Syndrome; MNX1; Motor Neuron and Pancreas Homeobox; Mb; Megabase; SNV; single nucleotide variant; ETV3L; ETS Variant 3 Like; ARID5A; AT-rich interactive domain-containing protein 5A; NCAPD3; non-SMC condensin II complex subunit D3; ARM; Anor

دانلود رایگان متن کامل مقاله ISI 22 صفحه سال انتشار : 2017 سفارش ترجمه

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

Keywords: پلیفن; 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

Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients

Keywords: پلیفن; Fructose-1,6-bisphosphatase; FBPase deficiency; FBP1 gene mutation; FBPase; fructose-1,6-bisphosphatase; HGMD; Human Gene Mutation Database; Polyphen; Polymorphism Phenotyping; SIFT; Sorting Intolerant From Tolerant; ExAC; Exome Aggregation Consortium;

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

Exploring the deleterious SNPs in XRCC4 gene using computational approach and studying their association with breast cancer in the population of West India

Keywords: پلیفن; ARMS; amplification-refractory mutation system; BER; base excision repair; CI; confidence interval; DDG; Gibbs free energy change; HWE; Hardy-Weinberg equilibrium; HMM; Hidden Markov Model; NCBI; National Centre for Biological Information; NHEJ; non-hom

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

Computational analysis of non-synonymous single nucleotide polymorphism in the bovine cattle kappa-casein (CSN3) gene

Keywords: پلیفن; SNP; single nucleotide polymorphism; SIFT; Sorting Intolerant From Tolerant; PolyPhen; phenotype polymorphism; nsSNP; nonsynonymous single nucleotide polymorphism; MUSTER; MUlti-Sources ThreadER; NCBI; National Centre for Biological Information; PROVEAN;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2018 سفارش ترجمه

Mucolipidosis type III gamma: Three novel mutation and genotype-phenotype study in eleven patients

Keywords: پلیفن; α; alpha; bp; base pair(s); β; beta; cDNA; DNA complementary to RNA; dNTP; deoxyribonucleoside triphosphate; γ; gamma; GERP; Genomic Evolutionary Rate Profiling; GNPTAB; gene encoding the alpha/beta subunit of the N-acetylglucosamine-1-phosphotransfera

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

Computational prediction of the effects of non-synonymous single nucleotide polymorphisms in the human Quinone Oxidoreductase 1 (NQO1)

Keywords: پلیفن; SNP; Single nucleotide polymorphisms; nsSNPs; Non-synonymous SNPs; NQO1; NAD(P)H Quinone Oxidoreductase 1; SIFT; Sorting Intolerant from Tolerant; PolyPhen; phenotype polymorphism; ROVEAN; Protein Variation Effect Analyzer; PDB; Protein Data Bank; GDT; gl

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2017 سفارش ترجمه

Computational analysis for the determination of deleterious nsSNPs in human MTHFD1 gene

Keywords: پلیفن; In silico analysis; Human MTHFD1 gene polymorphism; Single nucleotide polymorphisms; Folate metabolism; MTHFD15; 10-methylenetetrahydrofolate dehydrogenase 1; SIFT; sorting intolerant from tolerant; SNPs&GO; single nucleotide polymorphisms and gene ontolo

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

Putative role of KIR3DL1/3DS1 alleles and HLA-Bw4 ligands with end stage renal disease and long term renal allograft survival

Keywords: پلیفن; KIRs; killer cell immunoglobulin-like receptors; NK; natural killer; HLA; human leukocyte antigen; LRC; leukocyte receptor complex; IPD-KIR; immuno polymorphism database for KIR; HCV; hepatitis C virus; HIV; human immunodeficiency virus; HSCT; hematopoiet

دانلود رایگان متن کامل مقاله ISI 32 صفحه سال انتشار : 2017 سفارش ترجمه

In silico analysis of nsSNPs in human methyl CpG binding protein 2

Keywords: پلیفن; MECP2; methyl CpG binding protein 2; SNP; single nucleotide polymorphism; SIFT; sorting intolerant from tolerant; PolyPhen; phenotype polymorphism; nsSNP; non synonymous single nucleotide polymorphism; OMIM; online Mendelian inheritance in man; MUSTER; mu

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2016 سفارش ترجمه

Use of in silico tools for classification of novel missense mutations identified in dystrophin gene in developing countries

Keywords: پلیفن; DMD; Duchenne muscular dystrophy; BMD; Becker muscular dystrophy; MLPA; Multiplex Ligation-dependent Probe Amplification; SIFT; Sorting Intolerant From Tolerant; PolyPhen; Polymorphism Phenotyping; Panther; Protein ANalysis THrough Evolutionary Relationsh

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

Familial dorsalization of the skin of the proximal palm and the instep of the sole of the foot

Keywords: پلیفن; EN-1; Engrailed-1; WNT7A1; wingless-type MMTV integration site family, member; LMX-1B; LIM homeobox transcription factor 1, beta; BMP; bone morphogentic proteins; GLE1; Homo sapiens GLE1 RNA export mediator homolog (yeast); MRI; magnetic resonance imaging

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

Molecular basis of albinism in India: Evaluation of seven potential candidate genes and some new findings

Keywords: پلیفن; A; adenosine; Ala; alanine; Arg; arginine; AROA; autosomal recessive ocular albinism; Asn; asparagine; C; cytidine; CSIR; Council of Scientific and Industrial Research; C‐terminal; carboxy terminal; Cys; cysteine; DCT; DOPAchrome tautomerase; db SNP; Th

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2012 سفارش ترجمه

In silico analysis of Single Nucleotide Polymorphisms (SNPs) in human BRAF gene

Keywords: پلیفن; SIFT; Sorting Intolerant from Tolerant; Polyphen; Phenotype Polymorphism; CFC; Cardio-Facio-Cutaneous; SNP; Single Nucleotide Polymorphism; nsSNP; Nonsynonymous Polymorphism; OMIM; Online Mendelian Inheritance in Man; ANOLEA; Atomic Non-Local Environment

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2012 سفارش ترجمه

Identification of Mutations in SLC40A1 That Affect Ferroportin Function and Phenotype of Human Ferroportin Iron Overload

Keywords: پلیفن; Hyperferritinemia; Non-HFE Hemochromatosis; Bioinformatics; SLC11A3; FPN-GFP; ferroportin/green fluorescent protein; PolyPhen; Polymorphism Phenotyping; SIFT; Sorting Intolerant From Tolerant;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2011 سفارش ترجمه

Non-neutral nonsynonymous single nucleotide polymorphisms in human ABC transporters: the first comparison of six prediction methods

Keywords: پلیفن; phenotype; SNAP; PolyPhen; SIFT; Panther; Pmut; SNP; ABC transporter;

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2011 سفارش ترجمه

Protective effects of methyl gallate on H2O2-induced apoptosis in PC12 cells

Keywords: پلیفن; ROS, reactive oxygen species; EGCG, epigallocatechin gallate; MG, methyl gallate; GA, gallic acid; NAC, N-acetylcysteine; H2O2, hydrogen peroxide; CCCP, carbonyl cyanide 3-chlorophenylhydrazone; MMP, mitochondria membrane potentialMethyl gallate; Polyphen

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2010 سفارش ترجمه

Research ArticleFerroportin disease: A systematic meta-analysis of clinical and molecular findings

Keywords: پلیفن; AUROC; area under the receiver operator curve; ER; endoplasmic reticulum; HIC; hepatic iron concentration; JAK2; Janus Kinase 2; MRI; magnetic resonance imaging; PolyPhen; polymorphism phenotyping; ROC; receiver operator curve; SIFT; sorting intolerant fr

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2010 سفارش ترجمه

Identification and structural comparison of deleterious mutations in nsSNPs of ABL1 gene in chronic myeloid leukemia: A bio-informatics study

Keywords: پلیفن; Chronic myeloid leukemia (CML); ABL1 gene; nsSNP; 3′ UTR region; Deleterious mutations; SIFT; PolyPhen; Modeled structure; Stabilizing residue

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2008 سفارش ترجمه

Computational and Structural Investigation of Deleterious Functional SNPs in Breast Cancer BRCA2 Gene

Keywords: پلیفن; BRCA2 gene; breast cancer; SIFT; PolyPhen; UTRscan; modeled structure;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2008 سفارش ترجمه

Correlating observed odds ratios from lung cancer case–control studies to SNP functional scores predicted by bioinformatic tools

Keywords: پلیفن; SNP; SIFT; PolyPhen; SNPs3D; Pmut

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2008 سفارش ترجمه

Identification and in silico analysis of functional SNPs of the BRCA1 gene

Keywords: پلیفن; BRCA1 gene; Breast cancer; SIFT; PolyPhen; FastSNP; Modeled structure

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2007 سفارش ترجمه

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

Keywords: پلیفن; 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