دانلود مقالات ISI درباره توالی کامل exome + ترجمه فارسی

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

Keywords: توالی کامل exome; Mitochondrial disorders; Next Generation Sequencing; Whole Exome sequencing; E4F1;

دانلود رایگان متن کامل مقاله ISI 39 صفحه سال انتشار : 2016 سفارش ترجمه

Novel biallelic OTOGL mutations in a Chinese family with moderate non-syndromic sensorineural hearing loss

Keywords: توالی کامل exome; Non-syndromic sensorineural hearing loss; OTOGL; Whole exome sequencing

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2015 سفارش ترجمه

Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype

Keywords: توالی کامل exome; Mucolipidosis II/III alpha/beta; Whole exome sequencing; Molecular diagnosis

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2015 سفارش ترجمه

Preimplantation genetic risk reduction: a new dilemma in the era of chromosomal microarrays and exome sequencing

Keywords: توالی کامل exome; chromosomal microarrays; PGD; risk reduction; variants of unknown significance (VUS); whole exome sequencing;

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

Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia

Keywords: توالی کامل exome; SPG7; ARHSP; Whole exome sequencing; Frameshift deletion

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

Neuroimaging studies and whole exome sequencing of PLA2G6-associated neurodegeneration in a family with intrafamilial phenotypic heterogeneity

Keywords: توالی کامل exome; NBIA; Intrafamilial phenotypic variability; PLAN; PLA2G6; Whole exome sequencing;

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

Identification of HIBCH Gene Mutations Causing Autosomal Recessive Leigh Syndrome: A Gene Involved in Valine Metabolism

Keywords: توالی کامل exome; Leigh syndrome; valine; inborn error of metabolism; HIBCH; whole exome sequencing

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

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

Keywords: توالی کامل exome; 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

Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings

Keywords: توالی کامل exome; NBIA; 4H syndrome; Demyelinating disease; Leukodystrophy; WDR45; POLR3A; Whole exome sequencing

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

Candidate gene discovery in autoimmunity by using extreme phenotypes, next generation sequencing and whole exome capture

Keywords: توالی کامل exome; Next generation sequencing; Polyautoimmunity; Multiple autoimmune syndrome; Whole exome sequencing; Whole genome sequencing

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

Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance

Keywords: توالی کامل exome; spinal muscular atrophy with lower extremity predominance; SMA-LED; distal spinal muscular atrophy; dSMA; whole exome sequencing; DYNC1H1; Charcot-Marie-Tooth;

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: توالی کامل exome; 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

Polymerase ε (POLE) ultra-mutated tumors induce robust tumor-specific CD4 + T cell responses in endometrial cancer patients

Keywords: توالی کامل exome; USC; uterine serous carcinoma; POLE; polymerase ε; CTL; cytotoxic T lymphocytes; Polymerase ε; Endometrial carcinoma; Uterine serous papillary cancer; Whole exome sequencing;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2015 سفارش ترجمه

Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs

Keywords: توالی کامل exome; Late infantile ceroid lipofuscinoses; Whole exome sequencing; Autosomal recessive Parkinson-dystonia; TPP1 gene mutations; Protracted CLN2 disease; Differential diagnoses of late infantile parkinsonism;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2015 سفارش ترجمه

Novel SMC1A frameshift mutations in children with developmental delay and epilepsy

Keywords: توالی کامل exome; Cornelia de Lange syndrome; SMC1A; Status epilepticus; Whole exome sequencing

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2015 سفارش ترجمه

Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline

Keywords: توالی کامل exome; Analysis pipeline; Encephalopathy; Intellectual disability; PGAP1; Retinal dystrophy; Whole Exome Sequencing;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2015 سفارش ترجمه

An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine

Keywords: توالی کامل exome; Hearing loss; Sensorineural hearing loss; Dilated cardiomyopathy; Mitochondrial; Long QT; Whole exome sequencing

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

Key features and clinical variability of COG6-CDG

Keywords: توالی کامل exome; 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

Współpraca genetyka klinicznego i biologa molekularnego - wczoraj i dziś

Keywords: توالی کامل exome; 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

Inconsistency and features of single nucleotide variants detected in whole exome sequencing versus transcriptome sequencing: A case study in lung cancer

Keywords: توالی کامل exome; Single nucleotide variants; Whole exome sequencing; RNA-Seq; Somatic mutations; Allele frequency; RNA editing

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

Identification of novel hereditary cancer genes by whole exome sequencing

Keywords: توالی کامل exome; Hereditary cancer syndromes; Cancer susceptibility; Germ-line mutation; Next generation sequencing; Whole exome sequencing;

دانلود رایگان متن کامل مقاله ISI 15 صفحه سال انتشار : 2015 سفارش ترجمه

Variation in PARK10 is not associated with risk and age at onset of Parkinson's disease in large clinical cohorts

Keywords: توالی کامل exome; Parkinson's disease; PARK10; Whole exome sequencing; NeuroX; Neurogenetics;

دانلود رایگان متن کامل مقاله ISI 83 صفحه سال انتشار : 2015 سفارش ترجمه

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

Keywords: توالی کامل exome; 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

Linkage Mapping and Whole Exome Sequencing Identify a Shared Variant in CX3CR1 in a Large Multi-Generation Family

Keywords: توالی کامل exome; developmental dysplasia of the hip; linkage analysis; whole exome sequencing; DNA variant; susceptibility inducing mutation

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

Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease

Keywords: توالی کامل exome; NSAD, non-syndromic aortic diseaseNext generation sequencing; Non-syndromic aortic disease; Targeted exome capture; TGFB2; Whole exome sequencing

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

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot–Marie–Tooth disease

Keywords: توالی کامل exome; Charcot–Marie–Tooth; FIG4; CMT4J; Autosomal recessive CMT; Whole exome sequencing

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

Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy

Keywords: توالی کامل exome; MYH7; Distal myopathy; Laing distal myopathy; Whole exome sequencing; Myosinopathies;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

Case ReportPaediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations

Keywords: توالی کامل exome; Whole exome sequencing; ABCB11 mutations; Paediatric hepatocellular carcinoma; NFE2L2; CTNNB1;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2014 سفارش ترجمه

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

Keywords: توالی کامل exome; 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

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia

Keywords: توالی کامل exome; CDG, Congenital Disorder of GlycosylationCongenital Disorder of Glycosylation; ALG12; CDG-Ig; ALG12-CDG; Severe skeletal dysplasia; Whole exome sequencing

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

Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations

Keywords: توالی کامل exome; 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

Reviews and PerspectivesReviews in Basic and Clinical Gastroenterology and HepatologyThe Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease

Keywords: توالی کامل exome; Inflammatory Bowel Disease; Crohn's Disease; Ulcerative Colitis; Unclassified Colitis; Indeterminate Colitis; Immunodeficiency; Pediatrics; IBD Unclassified; Genetics; Next-Generation Sequencing; Whole Exome Sequencing; CD; Crohn's disease; CGD; chron

دانلود رایگان متن کامل مقاله ISI 21 صفحه سال انتشار : 2014 سفارش ترجمه

Leptin Receptor Somatic Mutations Are Frequent in HCV-Infected Cirrhotic Liver and Associated With Hepatocellular Carcinoma

Keywords: توالی کامل exome; Liver Cancer; Whole Exome Sequencing; Genetics; STAT3; AID; activation-induced cytidine deaminase; HCC; hepatocellular carcinoma; HCV; hepatitis C virus; Ig; immunoglobulin; TAA; thioacetamide;

دانلود رایگان متن کامل مقاله ISI 46 صفحه سال انتشار : 2014 سفارش ترجمه

Case reportWhole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations

Keywords: توالی کامل exome; Pterygia; Whole exome sequencing; Glycogen storage disease; GBE1; Foetal akinesia;

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

Analysis of the inheritance pattern of a Chinese family with phaeochromocytomas through whole exome sequencing

Keywords: توالی کامل exome; CT; Computed Tomography; CTA; Computed Tomography Angiography; FDR; False Discovery Rate; GO; Gene Ontology; Indel; Insertion-Deletion; LOD; Logarithm of Odds; MEN2; Multiple Endocrine Neoplasia Type 2; MN; Metanephrine; NF1; Neurofibromatosis Type 1; N

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

Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing

Keywords: توالی کامل exome; Congenital disorders of glycosylation; Next generation sequencing; Whole exome sequencing; Metabolic disorder; Diagnostic testing;

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

Mutational landscape of AML with normal cytogenetics: Biological and clinical implications

Keywords: توالی کامل exome; normal karyotype; acute myeloid leukemia; mutations; whole exome sequencing;

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

Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype–genotype correlation in Japanese patients with pachydermoperiostosis

Keywords: توالی کامل exome; PDP; Whole exome sequencing; Mutation analysis; SLCO2A1; Prostaglandin transporterCVG, cutis verticisgyrata; NGS, next-generation DNA sequencer; PDP, pachydermoperiostosis; SLCO2A1, solute carrier organic anion transporter family member 2A1; PGT, prostagl

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2012 سفارش ترجمه