دانلود مقالات ISI درباره فنوتیپ پلی مورفیسم + 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: فنوتیپ پلی مورفیسم; 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

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

Keywords: فنوتیپ پلی مورفیسم; 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

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

Keywords: فنوتیپ پلی مورفیسم; 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

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

Keywords: فنوتیپ پلی مورفیسم; 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 analysis for the determination of deleterious nsSNPs in human MTHFD1 gene

Keywords: فنوتیپ پلی مورفیسم; 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: فنوتیپ پلی مورفیسم; 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

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

Keywords: فنوتیپ پلی مورفیسم; 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

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

Keywords: فنوتیپ پلی مورفیسم; 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: فنوتیپ پلی مورفیسم; 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: فنوتیپ پلی مورفیسم; 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

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

Keywords: فنوتیپ پلی مورفیسم; 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

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

Keywords: فنوتیپ پلی مورفیسم; 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

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

Keywords: فنوتیپ پلی مورفیسم; 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