دانلود مقالات ISI درباره Wes + ترجمه فارسی

Reliability and O&M sensitivity analysis as a consequence of site specific characteristics for wave energy converters

Keywords: CBA; Cost-Benefit Analysis; CCO; Channel Coastal Observatory; EMEC; European Marine Energy Centre; FMEA; Failure Modes and Effects Analysis; Hs; Significant Wave Height; LCOE; Levelised Cost of Energy; MTBF; Mean Time Between Failure; O&M; Operations and

دانلود رایگان متن کامل مقاله ISI 19 صفحه سال انتشار : 2017 سفارش ترجمه

CRISPR/Cas9 Engineering of Adult Mouse Liver Demonstrates That the Dnajb1-Prkaca Gene Fusion Is Sufficient to Induce Tumors Resembling Fibrolamellar Hepatocellular Carcinoma

Keywords: Liver Cancer; Protein Kinase A; PKA; Genomic Engineering; Mouse Model; CEA; carcinoembryonic antigen; CRISPR/Cas9; clustered regularly interspaced short palindromic repeats/CRISPR-associated 9; FACS; fluorescence-activated cell sorting; FL-HCC; fibrolamel

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

Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS

Keywords: NBAS; Acute liver failure; Elevated liver transaminases; Urticaria; Angioedema; NBAS; Neuroblastoma Amplified Sequence gene; ELT; elevated liver transaminases; ALF; acute liver failure; RALF; recurrent acute liver failure; SOPH; short stature with optic a

دانلود رایگان متن کامل مقاله ISI 23 صفحه سال انتشار : 2017 سفارش ترجمه

Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing

Keywords: ADNSHL; autosomal dominant non-syndromic hearing loss; CRISPR; clustered regularly interspaced short palindromic repeats; CV; consensus values; DNA; deoxyribonucleic acid; HHL; hereditary hearing loss; HL; hearing loss; HSF; Human Splicing Finder; IHCs; i

دانلود رایگان متن کامل مقاله ISI 25 صفحه سال انتشار : 2017 سفارش ترجمه

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages

Keywords: DEB; dystrophic epidermolysis bullosa; EB; epidermolysis bullosa; Mb; mega-base pair; NGS; next-generation sequencing; RDEB; recessive dystrophic EB; SNP; single nucleotide polymorphism; WES; whole-exome sequencing;

دانلود رایگان متن کامل مقاله ISI 31 صفحه سال انتشار : 2017 سفارش ترجمه

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease

Keywords: Whole-exome sequencing; Pompe disease; Glycogen storage disease type II; Limb girdle muscular dystrophy; Acid-alpha-1,4-glucosidase deficiency; GAA; ATAV; Analysis Tool for Annotated Variants; BWA; Burrows-Wheeler Aligner; CAP; College of American Patholo

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

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

Keywords: Lipodystrophy; POLD1 gene; Whole-exome sequencing; MDPL syndrome; ZnF2; MDPL; Mandibular hypoplasia, deafness, progeroid features and lipodystrophy syndrome; POLD1; Polymerase (DNA directed), delta 1, catalytic subunit; MAD; Mandibuloacral dysplasia; ZMPS

دانلود رایگان متن کامل مقاله ISI 34 صفحه سال انتشار : 2017 سفارش ترجمه

Recent Discoveries in the Genetics of Familial Colorectal Cancer and Polyposis

Keywords: Cancer Predisposition; Hereditary Non-polyposis Colorectal Cancer; Adenomatous Polyposis; Serrated Polyposis; Mixed Polyposis; CMMRD; constitutional mismatch repair deficiency; CN; copy number; CRC; colorectal cancer; kb; kilobase; MMR; DNA mismatch repai

دانلود رایگان متن کامل مقاله ISI 44 صفحه سال انتشار : 2017 سفارش ترجمه

Lipidomics, en route to accurate quantitation

Keywords: LE; liquid extraction; MTBE; methyl-tert-butyl ether; BUME; butanol/methanol; S1P; sphingosine-1-phosphate; FFA; free fatty acids; PAs; phosphatidic acids; PIPs; phosphoinositides; LPS; lipopolysaccharide; SDS; sodium dodecyl sulfate; MAs; myolic acids; S

دانلود رایگان متن کامل مقاله ISI 46 صفحه سال انتشار : 2017 سفارش ترجمه

Sporadic Early-Onset Diffuse Gastric Cancers Have High Frequency of Somatic CDH1 Alterations, but Low Frequency of Somatic RHOA Mutations Compared With Late-Onset Cancers

Keywords: Young; Stomach; Age; Genomic; CIN; chromosomal instability; DGC; diffuse gastric cancer; EBV; Epstein-Barr virus; EO; early onset; GC; gastric cancer; GS; genomically stable; HR; hazard ratio; LO; late onset; MSI; microsatellite instability; SNV; single n

دانلود رایگان متن کامل مقاله ISI 173 صفحه سال انتشار : 2017 سفارش ترجمه

Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome

Keywords: Autoimmune lymphoproliferative syndrome; TNFAIP3 (A20); ALPS; Autoimmune lymphoproliferative syndrome; CASP; Caspase; DNT; Double-negative T; GFP; Green fluorescent protein; IKK; IκB kinase; MAPK; Mitogen-activated protein kinase; NEMO; NF-κB essential

دانلود رایگان متن کامل مقاله ISI 191 صفحه سال انتشار : 2017 سفارش ترجمه

Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency

Keywords: Pontocerebellar hypoplasia; SEPSECS; Selenoprotein biosynthesis deficiency; Optic nerve atrophy; Mitochondrial myopathy; MRI; Magnetic resonance imaging; PCH; Pontocerebellar hypoplasia; WES; Whole exome sequencing; RCE; Respiratory chain enzyme analysis;

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

Exome and genome sequencing for inborn errors of immunity

Keywords: Next-generation sequencing; whole-exome sequencing; whole-genome sequencing; targeted sequencing; primary immunodeficiency; AD; Autosomal dominant; AF; Allele frequency; AR; Autosomal recessive; CADD; Combined annotation-dependent depletion; CID; Combined

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2016 سفارش ترجمه

Somatic Embryonic FGFR2 Mutations in Keratinocytic Epidermal Nevi

Keywords: EN; epidermal nevi; FGFR2; fibroblast growth factor receptor 2; KEN; keratinocytic epidermal nevi; WES; whole exome sequencing;

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2016 سفارش ترجمه

Novel germline ERCC5 mutations identified in a xeroderma pigmentosum complementation group G pedigree

Keywords: ERCC5; Excision Repair Cross-complementing Rodent Repair Deficiency Complementation Group 5 gene; nucleotide excision repair; whole exome sequencing; xeroderma pigmentosum complementation group G; CS; Cockayne syndrome; ERCC5; Excision Repair Cross-comple

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2015 سفارش ترجمه

Clinical and Genetic Aspects of the Segmental Overgrowth Spectrum Due to Somatic Mutations in PIK3CA

Keywords: CLOVES; Congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies; ddPCR; Droplet digital polymerase chain reaction; FFPE; Formalin-fixed and paraffin-embedded; KTS; Klippel-Trénaunay syndrome; LM; Lymphatic malformation; MCAP; Me

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

Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation

Keywords: HSP; hereditary spastic paraplegia; SPG11; spastic paraplegia type 11; MRI; magnetic resonance imaging; NGS; next-generation sequencing; SSD; splice site donor; WES; whole exome sequencing; NMD; nonsense-mediated mRNA decay; Spastic paraplegia; SPG11; Who

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

Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type 1

Keywords: DMPK; myotonic dystrophy protein kinase gene; EA1; episodic ataxia type 1; EEG; electroencephalography; EMG; electromyography; HTT; huntingtin gene; MRI; magnetic resonance imaging; WES; whole-exome sequencing;

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

Key features and clinical variability of COG6-CDG

Keywords: ALP; alkaline phosphatase; αFP; alpha fetoprotein; ASD; atrial septum defect; BAEP; auditory evoked brain stem potential; CDG; congenital disorder(s) of glycosylation; CHO; Chinese hamster ovary; CK; creatine kinase; CMV; cytomegalovirus; COG; conserved

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2015 سفارش ترجمه

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

Keywords: Atopy; skin barrier; atopic dermatitis; desmosome; desmoplakin; atopic sensitization; eosinophilic esophagitis; aCGH; Array comparative genome hybridization; AD; Atopic dermatitis; DSG1; Desmoglein 1 gene; DSP; Desmoplakin gene; PPK; Palmoplantar keratode

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2015 سفارش ترجمه

Współpraca genetyka klinicznego i biologa molekularnego - wczoraj i dziś

Keywords: dysmorfologia; porównawcza hybrydyzacja genomowa do mikromacierzy; aCGH; sekwencjonowanie eksomowe; WES; bazy danych; Dysmorphology; Array comparative genome hybridization; aCGH; Whole exome sequencing; WES; Databases;

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2015 سفارش ترجمه

Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia

Keywords: Endothelium; Fenestrae; Hypertriglyceridemia; Hypoalbuminemia; Hypoproteinemia; Very Early Onset Inflammatory Bowel Disease; Monogenic Diseases; Protein-Losing Enteropathy; Whole-Exome Sequencing; BSA; bovine serum albumin; DPBS; Dulbecco's phosphate-bu

دانلود رایگان متن کامل مقاله ISI 21 صفحه سال انتشار : 2015 سفارش ترجمه

Sequential combination of karyotyping and RNA-sequencing in the search for cancer-specific fusion genes

Keywords: FISH; fluorescence in situ hybridization; NGS; next generation sequencing; RNA-Seq; RNA sequencing; WES; whole exome sequencing; WGS; whole genome sequencing; Karyotyping; RNA-sequencing; Cancer-specific fusion genes;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2014 سفارش ترجمه

Hyperhomocysteinemia: Related genetic diseases and congenital defects, abnormal DNA methylation and newborn screening issues

Keywords: AHCY; adenosylhomocysteinase; BHMT; betaine-homocysteine methyl-transferase; Cbl-C; cobalamin C; CHD; congenital heart defects; CTH; cystathionine-γ-lyase; CBS; cystathionine-β-synthase; DS; Down syndrome; hHcy; hyperhomocysteinemia; Hcy; homocysteine

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

Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations

Keywords: arRP; autosomal recessive retinitis pigmentosa; MRI; magnetic resonance imaging; PHARC; polyneuropathy, hearing loss, cerebellar ataxia, RP, and early-onset cataract; RP; retinitis pigmentosa; WES; whole exome sequencing;

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

Robust nonlinear control of wind energy conversion systems

Keywords: WES; TS model; Robust control; Parameter uncertainties

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

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

Keywords: Primary immunodeficiency; T-cell immunodeficiency; severe combined immune deficiency; EBV-associated B-cell lymphoproliferation; thymus; invariant natural killer T cell; mucosal-associated invariant T cell; EBER; EBV-encoded small RNA in situ hybridizatio

دانلود رایگان متن کامل مقاله ISI 19 صفحه سال انتشار : 2013 سفارش ترجمه