دانلود مقالات ISI درباره Dhplc + ترجمه فارسی

تجزیه وتحلیل پاتوژنز از تغییرات جدید در بیماران چینی هان با بیماری کلیوی

Pathogenicity analysis of novel variations in Chinese Han patients with polycystic kidney disease

Keywords: PKD; polycystic kidney disease; ADPKD; autosomal dominant polycystic kidney disease; ARPKD; autosomal recessive polycystic kidney disease; DHPLC; denaturing high performance liquid chromatography; SSCP; single strand polymorphism analysis; PGD; preimplant

دانلود رایگان متن کامل مقاله ISI 39 صفحه سال انتشار : 2017 سفارش ترجمه

فرمت پرایمر با دو رنگ مبتنی بر تشخیص همزمان چندگن در متابولیسم چربی

Two-dye based arrayed primer extension for simultaneous multigene detection in lipid metabolism

Keywords: APEX; arrayed primer extension; apoB-100; apolipoprotein B-100; apoE; apolipoprotein E; CETP; cholesteryl ester transfer protein; CVDs; cardiovascular diseases; DGGE; denaturing gradient gel electrophoresis; DHPLC; denaturing high performance liquid chrom

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

غربالگری نوزادان برای آتروفی عضلانی نخاعی: پیش بینی نیاز قریب الوقوع

Newborn screening for spinal muscular atrophy: Anticipating an imminent need

Keywords: AAV; adeno-associated virus; ASO; antisense oligonucleotides; DBS; dried blood spot(s); DcPS; human scavenger decapping enzyme; DHPLC; denaturing high-performance liquid chromatography; HRMA; high-resolution melting analysis; LNA; lock nucleic acid; MLPA;

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2015 سفارش ترجمه

تعیین پیشبینی پیشگویی ژنتیکی مبتنی بر فنوتیپ برای بیماران غیر مرتبط با کاردیومیوپاتی هیپرتروفی

Characterization of a Phenotype-Based Genetic Test Prediction Score for Unrelated Patients With Hypertrophic Cardiomyopathy

Keywords: AUC; area under the curve; DHPLC; denaturing high-performance liquid chromatography; Dx; diagnosis; HCM; hypertrophic cardiomyopathy; Hx; history; ICD; implantable cardioverter defibrillator; LVOT; left ventricular outflow tract; MLVWT; maximum left ventr

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2014 سفارش ترجمه

Maturity Onset Diabetes of the Young (MODY) in Tunisia: Low frequencies of GCK and HNF1A mutations

Keywords: Apo A; apolipoprotein A; Apo B; apolipoprotein B; BMI; body mass index; DHPLC; Denaturing High Performance Liquid Chromatography; GAD; Anti-Glutamic acid Decarboxylase; HbA1c; glycated hemoglobin; HDL-C; high-density lipoprotein cholesterol; HLA-DRB1; HLA

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2018 سفارش ترجمه

A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization

Keywords: CDPX2; X-linked dominant chondrodysplasia punctata-2; CHILD; congenital hemidysplasia with ichthyosiform erythroderma and limb defects; dHPLC; denaturing high-performance liquid chromatography; FF-MAS; follicular fluid-meiosis activating sterol; GC-FID; g

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2017 سفارش ترجمه

Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients

Keywords: DHPLC; denaturing high performance liquid chromatography; DiGO; drug-induced gingival overgrowth; GINGF1; hereditary gingival fibromatosis 1; HGF; hereditary gingival fibromatosisis; MAF; minor allele frequency; PCR; polymerase chain reaction; PiGO; pheny

دانلود رایگان متن کامل مقاله ISI 18 صفحه سال انتشار : 2017 سفارش ترجمه

Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations

Keywords: dHPLC; denaturing High Performance Liquid Chromatography; FN; false negative; FP; false positive; ISP; Ion Sphere Particle; NGS; next generation sequencing; TN; true negative; TP; true positive; Next generation sequencing; Ion Torrent PGM; BRCA1; BRCA2; T

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

Regular ArticleRapid detection of G6PD mutations by multicolor melting curve analysis

Keywords: G6PD; glucose-6-phosphate dehydrogenase; NADPH; nicotinamide adenine dinucleotide phosphate; ARMS; amplification refractory mutation system; DHPLC; denaturing high-performance liquid chromatography; RDB; reverse dot blot assay; HRM; high-resolution meltin

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

Characterization of additional vitamin D binding protein variants

Keywords: DBP; vitamin D binding protein; DHPLC; denaturing high performance liquid chromatography; GC; group specific component; dbSNP; single nucleotide polymorphism database; 25OHD; 25-hydroxyvitamin D; LC-ESI-TOF-MS; liquid chromatography-electrospray ionizatio

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

De novo assembly and characterization of the Trichuris trichiura adult worm transcriptome using Ion Torrent sequencing

Keywords: BLAST; Basic Local Alignment Search Tool; cDNA; complementary DNA; DHPLC; denaturing high-performance liquid chromatography; GO; Gene Ontology; KEGG; Kyoto Encyclopedia of Genes and Genomes; NCBI; National Center for Biotechnology Information; NR; non-red

دانلود رایگان متن کامل مقاله ISI 33 صفحه سال انتشار : 2016 سفارش ترجمه

Implementation of a companion diagnostic in the clinical laboratory: The BRAF example in melanoma

Keywords: IVD; in vitro diagnostics; BRAF; V-RAF murine sarcoma viral oncogene homolog B1; SSCP; single-stranded conformation polymorphism analysis; dHPLC; denaturing high performance liquid chromatography; HRMA; high resolution melting analysis; LDTs; Laboratory D

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

Characterization of non-classical quinolone resistance in Salmonella enterica serovar Typhi: Report of a novel mutation in gyrB gene and diagnostic challenges

Keywords: Salmonella Typhi; Decreased ciprofloxacin susceptibility; DHPLC; gyrB mutation; VNTR

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

High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: Molecular and clinical findings of Turkish probands

Keywords: AdoMet; S-adenosyl-l-methionine; AT; right atrial thrombosis; CBS; cystathionine beta-synthase; CVST; cerebral venous sinus thrombosis; dHPLC; denaturating high-performance liquid chromatography; DVT; deep vein thrombosis; F; female; Hcy; homocysteine; KS

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

Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease

Keywords: GAA; acid α-glucosidase; HRM; high resolution melting; DBS; dried blood spot; PCR; polymerase chain reaction; WCN; weighted contact number; DHPLC; denaturing high performance liquid chromatography; Acid α-glucosidase (GAA) gene; High resolution melting;

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

Clinicogenetic Study of Turkish Patients With Syndromic Craniosynostosis and Literature Review

Keywords: Apert syndrome; Crouzon syndrome; Pfeiffer syndrome; craniosynostosis; DHPLC

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

Functional interaction of the cystic fibrosis transmembrane conductance regulator with members of the SLC26 family of anion transporters (SLC26A8 and SLC26A9): Physiological and pathophysiological relevance

Keywords: cAMP; cyclic adenosine monophosphate; CF; cystic fibrosis; CFBE4Io-; cystic fibrosis bronchial epithelial cell line; CFTR; cystic fibrosis transmembrane conductance regulator; CHO-K1; Chinese hamster ovary-K1; DHPLC; denaturing high performance liquid chr

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2014 سفارش ترجمه

Effects of fertilisation, temperature and water content on microbial properties and methane production and methane oxidation in subalpine soils

Keywords: Methane emission; Microbial biomass; Microbial activity; dHPLC; Methanogenic community

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2014 سفارش ترجمه

BsmI polymorphism of vitamin D receptor gene and cancer risk: A comprehensive meta-analysis

Keywords: AA; African-American; BCC; basal cell carcinoma; CCS1-2; case-control study 1-2; CPS-II; cancer prevention study II; CI; confidence interval; DGGE; denaturing gradient gel electrophoresis; DHPLC; denaturing high performance liquid chromatography; EAC; e

دانلود رایگان متن کامل مقاله ISI 18 صفحه سال انتشار : 2014 سفارش ترجمه

Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: Identification of novel mutations

Keywords: CDKL5; cyclin-dependent kinase-like 5; HRMA; high resolution melting analysis; DNA; deoxyribonucleic acid; dHPLC; denaturing high performance liquid chromatography; RTT; Rett syndrome; ISSX; infantile spasm syndrome X-linked; MECP2; methyl CpG-binding pro

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

Combination of multiplex PCR with denaturing high-performance liquid chromatography for rapid detection of Mycobacterium genus and simultaneous identification of the Mycobacterium tuberculosis complex

Keywords: DHPLC; Multiplex PCR; Mycobacterium; The Mycobacterium tuberculosis complex

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2013 سفارش ترجمه

Identification of a fungal community on gilded wood carved heritage

Keywords: S. lacrymans; DHPLC; Gilded wood; Molecular biology; Cultural heritage

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

Changes of poultry faecal microbiota associated with Clostridium difficile colonisation

Keywords: Microbiota; Fungi; Archaea; DHPLC; Animals; Clostridium difficile

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2013 سفارش ترجمه

Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population

Keywords: SCA27; FGF14; DHPLC; Polymorphism; Mutation;

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

Detection of a novel splicing mutation causing analbuminemia in a Libyan family

Keywords: Analbuminemia; Genetic disorder; Splicing mutation; DHPLC; DNA sequencing

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

Association between Glu298Asp/677C-T single nucleotide polymorphism in the eNOS/MTHRF gene and blood stasis syndrome of ischemic stroke

Keywords: IS; ischemic stroke; BSS; blood stasis syndrome; BSS-IS; blood stasis syndrome of ischemic stroke; eNOS; endothelial nitric oxide synthase; MTHRF; methylenetetrahydrofolate reductase; SNPs; single nucleotide polymorphisms; DHPLC; denaturing high-performan

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

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

Keywords: SLC6A8; Creatine transporter; Missense variants; LOVD; DHPLC

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2012 سفارش ترجمه

Validation of the PCR–dHPLC method for rapid identification of Candida glabrata phylogenetically related species in different biological matrices

Keywords: Real-time PCR; dHPLC; C. glabrata; Cryptic species; Assay validation; Biological matrices

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2012 سفارش ترجمه

PCR and DHPLC methods used to detect juice ingredient from 7 fruits

Keywords: Fruit juice; PCR; Real-time PCR; DHPLC;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2012 سفارش ترجمه

Analysis of human glutathione S-transferase alpha 1 (hGSTA1) gene promoter polymorphism using Denaturing High Performance Liquid Chromatography (DHPLC)

Keywords: DHPLC; Glutathione S transferase alpha 1; Heteroduplexes; Promoter; Polymorphism; GSTA1*A;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2011 سفارش ترجمه

Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome

Keywords: LQTS, Long QT Syndrome; HRM, High resolution melting; DHPLC, Denaturing high-performance liquid chromatographyMutations; Long QT Syndrome; High resolution melting; DHPLC; Polymorphisms; Molecular diagnosis

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2011 سفارش ترجمه

Identification of mutations in the lipoprotein lipase (LPL) and apolipoprotein C-II (APOC2) genes using denaturing high performance liquid chromatography (DHPLC)

Keywords: DHPLC; LPL; APOC2; PCR-based amplification; Mutational detection; Chromatography

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2011 سفارش ترجمه

Six novel ATP7B mutations in Thai patients with Wilson disease

Keywords: Wilson disease; ATP7B; DHPLC; Mutation; Thailand

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2011 سفارش ترجمه

An assay of gene copy number and its application based on heteroduplex products

Keywords: Gene copy number; PCR; DHPLC; α-thalassemia; Trisomy 21

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2011 سفارش ترجمه

Identification of bacteria in culture negative and polymerase chain reaction (PCR) positive intraocular specimen from patients with infectious endopthalmitis

Keywords: dHPLC; DNA sequencing; Infectious endophthalmitis

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2011 سفارش ترجمه

Mild Infantile Hypercalcemia: Diagnostic Tests and Outcomes

Keywords: CASR; Calcium-sensing receptor; DHPLC; Denaturing high-performance liquid chromatography; FHH; Familial hypocalciuric hypercalcemia; IGF; Insulin-like growth factor; IIH; Infantile hypercalcemia; PTH; Parathyroid hormone;

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

Mould and yeast identification in archival settings: Preliminary results on the use of traditional methods and molecular biology options in Portuguese archives

Keywords: Fungi; DHPLC; Archives; Paper documents;

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

The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC)

Keywords: Biotinidase deficiency; PCR; dHPLC; Mutation screening;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2010 سفارش ترجمه

Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of α-l-iduronidase mutations causing mucopolysaccharidosis type I

Keywords: Mucopolysaccharidosis type I; MPS I; α-l-Iduronidase; IDUA; dHPLC

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

Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia

Keywords: Arrhythmia; Arrhythmogenic cardiomyopathy; Sudden death; Cell adhesion molecules; Gene mutations; Compound genotypes; ARVC/D; arrhythmogenic right ventricular cardiomyopathy/dysplasia; ECG; electrocardiogram; DHPLC; denaturing high-performance liquid chro

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

Investigation of the intestinal microbiota in preterm infants using different methods

Keywords: Culture; dHPLC; Microbiota; Preterm infant; TTGE; 16S rRNA gene librarydHPLC, Denaturing high performance liquid chromatography; TTGE, Temporal temperature gradient gel electrophoresis

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

Identification of eight new mutations in the GCK gene by DHPLC screening in a Spanish population

Keywords: Glucokinase; MODY 2; dHPLC; Glucokinase regulatory protein; Genetics

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

Two-round allele specific-polymerase chain reaction: A simple and highly sensitive method for JAK2V617F mutation detection

Keywords: Myeloproliferative disorders; JAK2 mutation detection; AS-PCR; DHPLC; RFLP; Sequencing

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

Application of the DHPLC method for mutational detection of the CYP21A2 gene in congenital adrenal hyperplasia

Keywords: CYP21A2; CAH; DHPLC; PCR-based amplification; Mutational detection; Chromatography

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2009 سفارش ترجمه

Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene

Keywords: DCM, Dilated Cardiomyopathy; HRMA, High Resolution Melting Analysis; DHPLC, Denaturing High-Performance Liquid ChromatographyMutations; Laminopathies; Dilated cardiomyopathy; High resolution melting; DHPLC; LMNA

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2009 سفارش ترجمه

Detection and identification of U69 gene mutations encoded by ganciclovir-resistant human herpesvirus 6 using denaturing high-performance liquid chromatography

Keywords: U69; Protein kinase; HHV-6; GCV resistant; dHPLC

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2009 سفارش ترجمه

Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia

Keywords: Frontotemporal dementia; PSEN1 mutation; Atypical dementia; DHPLC; PGRN mutation

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2009 سفارش ترجمه

RISA–HPLC analysis of lung bacterial colonizers of cystic fibrosis children

Keywords: 16S-23S intergenic spacer; DHPLC; Cystic fibrosis; Opportunistic pathogens; Bacterial communities; Lung

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2009 سفارش ترجمه

NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease

Keywords: Hirschsprung; Haplotype; Neurotrophins; Germline mutation; dHPLC;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2008 سفارش ترجمه

Correlations between molecular profile and tumor location in Chinese patients with oligodendroglial tumors

Keywords: Oligodendroglial tumor; Molecular profile; Tumor location; DHPLC; LOH 1p; LOH 19q;

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