دانلود مقالات ISI درباره Cnv, Copy Number Variant + ترجمه فارسی

آزمایش جامع مولکولی در بیماران مبتلا به اختلال عملکرد طیف اوتیسم بالا

Comprehensive molecular testing in patients with high functioning autism spectrum disorder

Keywords: ADI-R, autism diagnosis interview-revised; ASD, autism spectrum disorder; ASSQ, autism spectrum screening questionnaire; BAP, broader autism phenotype; CGH-array, comparative genomic hybridization microarrays; CNV, copy number variant; DNA, deoxyribonucle

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

Host – hepatitis C viral interactions: The role of genetics

Keywords: AHC, acute hepatitis C; CHC, chronic hepatitis C; CNV, copy number variant; CRS, cirrhosis risk score; DC, dendritic cell; EWAS, epigenome-wide association study; GWAS, genome wide association study; HBV, hepatitis B virus; HCV, hepatitis C virus; HCC, he

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2016 سفارش ترجمه

Genetic Variations of IL17F and IL23A Show Associations with Behçet’s Disease and Vogt-Koyanagi-Harada Syndrome

Keywords: BD, Behçet’s disease; CNV, copy number variant; OR, odds ratio; PBMC, peripheral blood mononuclear cell; SLE, systemic lupus erythematosus; VKH, Vogt-Koyanagi-Harada

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

Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development

Keywords: ASD, autism spectrum disorder; ADHD, attention deficit disorder; CGE, caudal ganglionic eminence; CN, cranial nerve; CNV, copy number variant; DTI, diffusion tensor imaging; fMRI, functional magnetic resonance imaging; hChr, human chromosome; LCR, low cop

دانلود رایگان متن کامل مقاله ISI 28 صفحه سال انتشار : 2015 سفارش ترجمه

Alpha-defensin DEFA1A3 gene copy number variation in Asians and its genetic association study in Chinese systemic lupus erythematosus patients

Keywords: DEFA1A3, α-defensin 1–3 gene; NET, neutrophil extracellular traps; IFN, interferon; SLE, systemic lupus erythematosus; CNV, copy number variant; CHB, Han Chinese in Beijing; JPT, Japanese in Tokyo; SNP, single nucleotide polymorphism; GWAS, genome-wide as

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

Integrating mechanistic and polymorphism data to characterize human genetic susceptibility for environmental chemical risk assessment in the 21st century

Keywords: ACToR, Aggregated Computational Toxicology Resources; dbSNP, Single Nucleotide Polymorphism Database; CNV, Copy Number Variant; EGP, NIEHS-Environmental Genome Project; EWAS, Environment-Wide Association Study; GWAS, Genome-Wide Association Study; HapMap,

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2013 سفارش ترجمه

Role of advanced glycation endproducts and glyoxalase I in diabetic peripheral sensory neuropathy

Keywords: AGE, advanced glycation endproduct; ATP, adenosine triphosphate; CML, serum carboxymethyl lysine; CNV, copy number variant; DHAP, dihydroxyacetone phosphate; DRG, dorsal root ganglion; GAPDH, glyceraldehyde 3-phosphate dehydrogenase; GLO1, glyoxalase I; G

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2012 سفارش ترجمه

Copy number variations in neurodevelopmental disorders

Keywords: CNV, copy number variant; ID, Intellectual disability; IGE, epilepsy; ASD, autism spectrum disorders; ADHD, attention deficit hyperactivity disorder; ODD, oppositional defiant disorder; OCD, obsessive compulsive disorder; BPD, bipolar disorder; NDD, neuro

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2012 سفارش ترجمه

Molecular genetic studies of complex phenotypes

Keywords: AMD, age-related macular degeneration; CD-CV, common disease–common variant; CNV, copy number variant; DSV, DNA sequence variant; GWAS, genome-wide association studies; HDL-C, high-density lipoprotein cholesterol; LD, linkage disequilibrium; LOD, logarith

دانلود رایگان متن کامل مقاله ISI 16 صفحه سال انتشار : 2012 سفارش ترجمه

Screening for Copy Number Variation in Genes Associated With the Long QT Syndrome : Clinical Relevance

Keywords: CNV; deletion; long QT syndrome; MLPA; sudden deathCGH, comparative genomic hybridization; CNV, copy number variant; dHPLC, denaturing high-performance liquid chromatography; ECG, electrocardiogram/eclectrocardiographic; ICD, implantable cardioverter-defi

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2011 سفارش ترجمه

Integrating microRNAs into a system biology approach to acute lung injury

Keywords: ACE, angiotensin converting enzyme; ALI, acute lung injury; ARDS, acute respiratory distress syndrome; CNV, copy number variant; HTV, high tidal ventilation; IL, interleukin; LCL, lymphoblastoid cell line sample; LPS, lipopolysaccharide; miRNA, microRNA;

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

Genetics of allergic disease

Keywords: Heritability; genetics; genetic testing; pharmacogenetics; epigeneticsADAM33, A disintegrin and metalloprotease 33 gene; ADRB2, β2-Adrenoceptor gene; ARG, Arginase gene; BHR, Bronchial hyperresponsiveness; CNV, Copy number variant; CRHR1, Corticotropin-re

دانلود رایگان متن کامل مقاله ISI 14 صفحه سال انتشار : 2010 سفارش ترجمه

Genome-wide association studies: hypothesis-“free” or “engaged”?

Keywords: CDCV, common disease/common variant; CNV, copy number variant; GWAS, genome-wide association studies; SNP, single nucleotide polymorphism

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2009 سفارش ترجمه

Analysis of the multi-copy gene family FAM90A as a copy number variant in different ethnic backgrounds

Keywords: SNP, single nucleotide polymorphism; CNV, copy number variant; SD, segmental duplication; REPD, distal segmental duplications on 8p23.1; REPP, proximal segmental duplications on 8p23.1; UPL, universal probe library; Cp, crossing point.FAM90A (family with

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2008 سفارش ترجمه