دانلود مقالات ISI درباره Cnvs, Copy Number Variations + ترجمه فارسی

تظاهرات بالینی و طیف جهش 57 فرد مبتلا به کمبود مادرزادی فاکتور XI در چین

Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China

Keywords: APTT, activated partial thromboplastin time; BAT, bleeding assessment tool; BDGP, Berkeley Drosophila Genome Project; CNVs, copy number variations; FXI, Factor XI; FXI:C, FXI activity; F11, FXI gene; MLPA, multiplex ligation-dependent probe amplification;

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

Multiomics approach showing genome-wide copy number alterations and differential gene expression in different types of North-Indian pediatric brain tumors

Keywords: MB, Medulloblastoma; SHH, Sonic Hedgehog; MAGIC, Medulloblastoma advanced. Genomics International Consortium stratifying and targeting pediatric medulloblastoma through genomics; HTA, Human Transcriptome Array 2.0; CNVs, Copy number variations; MIP, Molec

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2016 سفارش ترجمه

Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability

Keywords: Intellectual disability; Microduplication; XIAP; STAG2; Genome-wide array analysisCASP3, cell-death proteases, caspase-3; CASP7, caspase-7; CNVs, copy number variations; DAPI, 40,6-diamidino-2-phenylindole; DD, developmental delay; FISH, fluorescence in s

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2015 سفارش ترجمه

Identification of organic acids as potential biomarkers in the urine of autistic children using gas chromatography/mass spectrometry

Keywords: 3PGPH, 3-phosphoglycerate dehydrogenase; CE–MS, capillary electrophoresis–mass spectrometry; CNVs, copy number variations; CRC, colorectal cancer; CSF, cerebrospinal fluid; GAII, glutaric aciduria type II; GC–MS, gas chromatography–mass spectrometry; LC–M

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

De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay

Keywords: MECP2, methyl CpG binding protein 2; FISH, fluorescence in situ hybridization; SNP, single-nucleotide polymorphism; CGH, comparative genome hybridization; CNVs, copy number variations; FoSTeS, Fork Stalling and Template Switching; IFN-α, interferon alphaX

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2014 سفارش ترجمه

Spheroid culture of LuCaP 147 as an authentic preclinical model of prostate cancer subtype with SPOP mutation and hypermutator phenotype

Keywords: AR, androgen receptor; CNVs, copy number variations; CRPC, castration-resistant PCa; K5, keratin 5; K18, keratin 18; PCa, prostate cancer; PCR, polymerase chain reaction; PSA, prostate-specific antigen; ROCK, Rho-associated protein kinase; SPOP, speckle-t

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2014 سفارش ترجمه

Identification of copy number variation of CAPN10 in Thais with type 2 diabetes by multiplex PCR and denaturing high performance liquid chromatography (DHPLC)

Keywords: CAPN10, Calpain10; CNVs, copy number variations; HWE, Hardy–Weinberg Equilibrium; DHPLC, denaturating high performance liquid chromatographyType 2 diabetes; CAPN10; Copy number variations

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

Avoiding mouse traps in schizophrenia genetics: lessons and promises from current and emerging mouse models

Keywords: schizophrenia; mouse models; candidate genes; rare mutations; common variants; disease modelscAMP, cyclic AMP; CDCA, common disease/common allele; CDRA, common disease/rare variant; CNVs, copy number variations; DGCR6, DiGeorge syndrome critical region 6;

دانلود رایگان متن کامل مقاله ISI 29 صفحه سال انتشار : 2012 سفارش ترجمه

Geoepidemiology and environmental factors of psoriasis and psoriatic arthritis

Keywords: Psoriasis; Psoriatic arthritis; Prevalence; Incidence; Genetics; Epidemiology; AutoimmunityCAD, coronary artery disease; CASPAR, ClASsification criteria for Psoriatic Arthritis; CNVs, Copy Number Variations; GWAS, Genome-Wide Association Studies; PsA, pso

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2010 سفارش ترجمه