دانلود مقالات ISI درباره توالی کامل exome + ترجمه فارسی

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

Keywords: توالی کامل exome; 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: توالی کامل exome; 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: توالی کامل exome; 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: توالی کامل exome; 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

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

Keywords: توالی کامل exome; 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

Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections

Keywords: توالی کامل exome; Antibody deficiency; APDS; Immunophenotyping; Whole-exome sequencing; PIK3R1;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2016 سفارش ترجمه

ARHGAP4 mutated in a Chinese intellectually challenged family

Keywords: توالی کامل exome; XLMR; X-linked mental retardation; EEG; Electroencephalogram; MRI; Magnetic resonance imaging; PHA; Phytohemagglutinin; LM-PCR; Ligation-mediated polymerase chain reaction; SNPs; Single nucleotide polymorphisms; InDels; Insertions or deletions; BWA; Burro

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2016 سفارش ترجمه

Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion

Keywords: توالی کامل exome; Mitochondrial DNA depletion; POLG2; Hepatic failure; Whole-exome sequencing; POLG;

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

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon–Lefevre syndrome in a Saudi family

Keywords: توالی کامل exome; Molecular diagnostics; Papillon–Lefevre syndrome; Whole-exome sequencing; Homozygosity mapping; CTSC gene; Saudi Arabia

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

Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules

Keywords: توالی کامل exome; Mitochondriopathy; Complex I deficiency; ACAD9 defect; Lethal neonatal lactic acidosis; Multiorgan failure; Metabolic disease; Mitochondrial hyperplasia; Whole-exome sequencing

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

Type 1 hyperlipoproteinemia in a child with large homozygous deletion encompassing GPIHBP1

Keywords: توالی کامل exome; Type 1 hyperlipoproteinemia; GPIHBP1; Xanthomas; Chylomicronemia; Whole-exome sequencing;

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

Dose-dependent de novo germline mutations detected by whole-exome sequencing in progeny of ENU-treated male gpt delta mice

Keywords: توالی کامل exome; Germline mutation; Whole-exome sequencing; Inherited mutation; Mutation frequency; gpt delta mouse; Transgenic rodent gene mutation assay;

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2016 سفارش ترجمه

Exome and genome sequencing for inborn errors of immunity

Keywords: توالی کامل exome; 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

Identification of a novel mutation in PLA2G6 gene in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy

Keywords: توالی کامل exome; Cortical myoclonic tremor with epilepsy; PLA2G6; Whole-exome sequencing;

دانلود رایگان متن کامل مقاله ISI 25 صفحه سال انتشار : 2016 سفارش ترجمه

New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy

Keywords: توالی کامل exome; Jeune syndrome; short-rib thoracic dystrophies; whole-exome sequencing; DYNC2H1; WDR60;

دانلود رایگان متن کامل مقاله ISI 31 صفحه سال انتشار : 2016 سفارش ترجمه

Whole exome sequencing identifies driver mutations in asymptomatic computed tomography-detected lung cancers with normal karyotype

Keywords: توالی کامل exome; CT-screening; normal karyotype; whole-exome sequencing; over-diagnosis; mutation instability in lung cancer;

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

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology

Keywords: توالی کامل exome; Tauopathy; Seizures; Whole-exome sequencing; Synaptojanin;

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

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

Keywords: توالی کامل exome; Deglycosylation; Intellectual disability; Neuromotor defect; NGLY1; Whole-exome sequencing

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: توالی کامل exome; 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

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

Keywords: توالی کامل exome; Perrault syndrome type 3; Brain atrophy; Whole-exome sequencing; Novel homozygous mutation; CLPP; Saudi Arabia;

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

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

Keywords: توالی کامل exome; 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

Exome sequencing identifies SUCO mutations in mesial temporal lobe epilepsy

Keywords: توالی کامل exome; Mesial temporal lobe epilepsy; Whole-exome sequencing; Dendritic formation;

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

CACNA1D De Novo Mutations in Autism Spectrum Disorders Activate Cav1.3 L-Type Calcium Channels

Keywords: توالی کامل exome; Autism spectrum disorders; Calcium channel blockers; Human genetics; L-type calcium channels; Neuropsychiatric disorders; Whole-exome sequencing;

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

Tissue-specific mtDNA abundance from exome data and its correlation with mitochondrial transcription, mass and respiratory activity

Keywords: توالی کامل exome; Mitochondrial DNA; Bioinformatics tools; Mitochondrial activity; Nucleo-mitochondrial cross-talk; Whole-exome sequencing; Mitochondrial gene expression;

دانلود رایگان متن کامل مقاله ISI 9 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: توالی کامل exome; 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

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

Keywords: توالی کامل exome; 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

Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child With Static Hypomyelinating Leukodystrophy

Keywords: توالی کامل exome; leukodystrophy; TUBB4A; whole-exome sequencing; hypomyelination;

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

Whole-exome sequence analysis of ataxia telangiectasia-like phenotype

Keywords: توالی کامل exome; Whole-exome sequencing; Neurodegeneration; Immunodeficiency; CD40 ligand; SIL1; DNA damage;

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

Exome sequencing identifies a CHKB mutation in Spanish patient with Megaconial Congenital Muscular Dystrophy and mtDNA depletion

Keywords: توالی کامل exome; CHKB; Megaconial Congenital Muscular Dystrophy; Mitochondria; mtDNA depletion; Whole-exome sequencing

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

Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing

Keywords: توالی کامل exome; SNV; single nucleotide variant; Hoyeraal-Hreidarsson syndrome; Dyskeratosis congenita; Telomere dysfunction; DKC1; Whole-exome sequencing;

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

Featured ArticleParkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation

Keywords: توالی کامل exome; Microtubule-associated protein-tau; Dementia; Early-onset Alzheimer's disease; Frontotemporal dementia; Whole-exome sequencing;

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

Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination

Keywords: توالی کامل exome; Hypomyelination; Leukodystrophy; Hypomyelination with hypodontia and hypogonadotropic hypogonadism (4H) syndrome; POLR3A; Whole-exome sequencing; RNA polymerase III (Pol III)

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

Identification of A Novel SBF2 Frameshift Mutation in Charcot–Marie–Tooth Disease Type 4B2 Using Whole-exome Sequencing

Keywords: توالی کامل exome; Whole-exome sequencing; Charcot–Marie–Tooth disease; Early-onset glaucoma; SBF2

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

Original ArticleBrain Malformations Associated With Knobloch Syndrome-Review of Literature, Expanding Clinical Spectrum, and Identification of Novel Mutations

Keywords: توالی کامل exome; Knobloch syndrome; cortical development; COL18A1; collagen XVIII; whole-exome sequencing;

دانلود رایگان متن کامل مقاله ISI 16 صفحه سال انتشار : 2014 سفارش ترجمه

Drosophila models of early onset cognitive disorders and their clinical applications

Keywords: توالی کامل exome; Intellectual disability; Mental retardation; Neuropsychiatric disorders; Cognitive disorders; Drosophila melanogaster; Model organism; Learning and memory; Synapse; Dendrites; Diagnostics; Next-generation sequencing; Whole-exome sequencing; Reversible cog

دانلود رایگان متن کامل مقاله ISI 17 صفحه سال انتشار : 2014 سفارش ترجمه

Featured ArticleTwo rare AKAP9 variants are associated with Alzheimer's disease in African Americans

Keywords: توالی کامل exome; Whole-exome sequencing; Late-onset Alzheimer's disease; Rare variant; Genetic association; African American; AKAP9;

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

Oligogenic germline mutations identified in early non-smokers lung adenocarcinoma patients

Keywords: توالی کامل exome; Oligogenic model; Whole-exome sequencing; Lung cancer susceptibility; Germline variants; Next-generation sequencing; Lung adenocarcinoma;

دانلود رایگان متن کامل مقاله ISI 23 صفحه سال انتشار : 2014 سفارش ترجمه

Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype

Keywords: توالی کامل exome; Spondyloepimetaphyseal dysplasia; SEMD; Centrosome; Ninein; Whole-exome sequencing;

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

Impact of Next-Generation Whole-Exome sequencing in molecular diagnostics

Keywords: توالی کامل exome; Next-Generation Sequencing; Whole-Exome sequencing; Genomic medicine; Personal genome sequencing; Personalize medicine;

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

Immune deficiencies, infection, and systemic immune disordersWhole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias

Keywords: توالی کامل exome; Combined immunodeficiency with multiple intestinal atresias; tetratricopeptide repeat domain 7A; whole-exome sequencing; thymus; CID-MIA; Combined immunodeficiency with multiple intestinal atresias; GATK; Genome Analysis Toolkit; GvHD; Graft-versus-host d

دانلود رایگان متن کامل مقاله ISI 26 صفحه سال انتشار : 2013 سفارش ترجمه

Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia

Keywords: توالی کامل exome; Whole-exome sequencing; ABCD1 gene; Hereditary spastic paraplegia; Genetic heterogeneity

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2013 سفارش ترجمه

Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency

Keywords: توالی کامل exome; Whole-exome sequencing; systematic variant categorization; caspase recruitment domain 11 (CARD11); severe combined immunodeficiency; T cell; B cell; nuclear factor κB; infection; BCR; B-cell receptor; CARD; Caspase recruitment domain; GATK; Genome Analys

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2013 سفارش ترجمه

Genomic Approaches to Chronic Lymphocytic Leukemia

Keywords: توالی کامل exome; Chronic lymphocytic leukemia; Genomics; Comparative genomic hybridization; Single-nucleotide polymorphism arrays; Linkage mapping; Genome-wide association studies; Whole-exome sequencing; Whole-genome sequencing;

دانلود رایگان متن کامل مقاله ISI 15 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: توالی کامل exome; 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