دانلود مقالات ISI درباره توالی کامل exome + ترجمه فارسی

Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica

Keywords: توالی کامل exome; Geroderma osteodysplastica; Cutis laxa syndrome; Osteoporosis; Whole exome sequencing; Bisphosphonate;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2017 سفارش ترجمه

Novel EYA1 variants causing Branchio-oto-renal syndrome

Keywords: توالی کامل exome; Branchiootorenal syndrome; EYA1; Branchial arch anomalies; Hearing loss; Whole exome sequencing;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2017 سفارش ترجمه

Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families

Keywords: توالی کامل exome; PJVK; MYO15A; Hearing loss; Whole exome sequencing; Morocco;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2017 سفارش ترجمه

Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency

Keywords: توالی کامل exome; CoQ10 deficiency; CoQ4; Infantile cardiomyopathy; Encephalomyopathy; Whole exome sequencing;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2017 سفارش ترجمه

Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity

Keywords: توالی کامل exome; Obesity; Whole exome sequencing; ALMS1; Sanger sequencing; Alstrom syndrome;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2017 سفارش ترجمه

Identification of a c.544C>T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome

Keywords: توالی کامل exome; WDR34; Short rib-polydactyly syndrome; SNP; Whole exome sequencing;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2017 سفارش ترجمه

Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency

Keywords: توالی کامل exome; PDC; pyruvate dehydrogenase complex; CI; confidence interval; TGP; targeted gene panel; TAT; turn-around-time; RR; reference range; WES; whole exome sequencing; WGS; whole genome sequencing; Biochemical testing; Sensitivity; Variability; Diagnostic algori

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2017 سفارش ترجمه

A case of splenomegaly in CBL syndrome

Keywords: توالی کامل exome; RASopathies; Splenomegaly; Myelomonocytic leukemia; Genomics; Whole exome sequencing; Case report; juvenile myelomonocytic leukemia; JMML; casitas B-lineage lymphoma proto-oncogene; CBL; attention deficit hyperactivity disorder; ADHD; whole exome sequenci

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2017 سفارش ترجمه

Research paperExome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy

Keywords: توالی کامل exome; Chronic myeloid leukemia; Tyrosine kinase inhibitor; Drug resistance; Whole exome sequencing;

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

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency

Keywords: توالی کامل exome; SCEH; short-chain enoyl-CoA hydratase; PDC; pyruvate dehydrogenase complex; KDC; α-ketoglutarate dehydrogenase complex; MDHB; 2-methyl-2,3-dihydroxybutyric acid; WES; whole exome sequencing; RR; reference range; DOL; day-of-life; Short-chain enoyl-CoA hy

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2017 سفارش ترجمه

Ending a Diagnostic Odyssey

Keywords: توالی کامل exome; Diagnostic odyssey; Whole exome sequencing; Genetic counseling; Variant calling; Categorical model for WES results disclosure; Patient experiences-Case series;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2017 سفارش ترجمه

Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family

Keywords: توالی کامل exome; Whole exome sequencing; Lafora disease; EPM2A; Mutation;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2017 سفارش ترجمه

The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment

Keywords: توالی کامل exome; APDS; activated PI3-kinase delta syndrome; WES; whole exome sequencing; BCG; Mycobacterium bovis bacillus Calmette Guèrin; PBMC; peripheral blood mononuclear cells; CFSE; carboxyfluorescein succinimidyl ester; IVIg; intravenous immunoglobulin; PB; periph

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2017 سفارش ترجمه

Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion

Keywords: توالی کامل exome; SUCL; succinyl-CoA ligase; A-SCS; succinyl-CoA synthetase (ADP-forming); SM; skeletal muscle; PDC; pyruvate dehydrogenase complex; KDC; α-ketoglutarate dehydrogenase complex; PEPCK; phosphoenolpyruvate carboxykinase; ETC; electron transport chain; WES; w

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2017 سفارش ترجمه

Original articleExome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes

Keywords: توالی کامل exome; Whole exome sequencing; WES; Skewed X-inactivation; ATRX; DMD; RPS6KA3; MECP2;

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2017 سفارش ترجمه

Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature

Keywords: توالی کامل exome; PMSA; Protein multiple sequence alignments; FTHS; Frank-Ter Haar syndrome; WES; Whole Exome Sequencing; SH3; Src homology3; Frank-Ter Haar syndrome; SH3PXD2B; Whole exome sequencing;

دانلود رایگان متن کامل مقاله ISI 16 صفحه سال انتشار : 2017 سفارش ترجمه

A case of a novel mutation in HNF1β-related maturity-onset diabetes of the young type 5 with diabetic kidney disease complication in a Chinese family

Keywords: توالی کامل exome; Maturity-onset Diabetes of the Young; Hepatocyte nuclear factor 1β gene; Whole exome sequencing; Diabetic kidney disease; Mutation;

دانلود رایگان متن کامل مقاله ISI 17 صفحه سال انتشار : 2017 سفارش ترجمه

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort

Keywords: توالی کامل exome; Hearing loss; SLC26A4; Whole exome sequencing;

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

Highly heterogeneous genomic landscape of uterine leiomyomas by whole exome sequencing and genome-wide arrays

Keywords: توالی کامل exome; Uterine leiomyoma; uterine leiomyosarcoma; MED12 mutation negative; whole exome sequencing; whole genome copy number analysis;

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

Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations

Keywords: توالی کامل exome; Diamond-Blackfan anemia; Inherited bone marrow failure syndromes; RPL5; RPS19; Whole exome sequencing; Mosaicism;

دانلود رایگان متن کامل مقاله ISI 20 صفحه سال انتشار : 2017 سفارش ترجمه

Exome sequencing identified a novel SMAD2 mutation in a Chinese family with early onset aortic aneurysms

Keywords: توالی کامل exome; Aortic aneurysms; SMAD2; Mutation; Whole exome sequencing;

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: توالی کامل exome; 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

LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study

Keywords: توالی کامل exome; LYRM7; Mitochondriopathy; Complex III; Lactic acidosis; Encephalopathy; Whole exome sequencing;

دانلود رایگان متن کامل مقاله ISI 24 صفحه سال انتشار : 2017 سفارش ترجمه

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia

Keywords: توالی کامل exome; Pontocerebellar hypoplasia type 1; Human RNA exosome complex; Pyruvate dehydrogenase deficiency; Complex I deficiency; Mitochondrial disease; Whole exome sequencing; Transcriptome analysis; mtDNA copy numbers;

دانلود رایگان متن کامل مقاله ISI 29 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

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: توالی کامل exome; 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

Dravet syndrome with autism inherited from a paternal mosaic heterozygous mutation on SCN1A

Keywords: توالی کامل exome; Dravet syndrome; SCN1A; Mosaicism; Inheritance; Whole exome sequencing;

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

Case ReportA de novo mutation in KCNN3 associated with autosomal dominant idiopathic non-cirrhotic portal hypertension

Keywords: توالی کامل exome; INCPH; idiopathic non-cirrhotic portal hypertension; SK; small conductance Ca2+-activated K+; Idiopathic non-cirrhotic portal hypertension; Dominant inheritance; Whole exome sequencing; Single nucleotide substitution; KCNN3; Small conductance calcium-acti

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

Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency

Keywords: توالی کامل exome; Ketogenic diet; Epileptic encephalopathy; Whole exome sequencing; PIGA;

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

Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis

Keywords: توالی کامل exome; HSP; hereditary spastic paraplegia; SPG10; spastic paraplegia type 10; KIF5A; kinesin family member 5A; ALS; amyotrophic lateral sclerosis; Hereditary spastic paraplegia; SPG10; Whole exome sequencing; Dysarthria; Fasciculation; Elderly asymptomatic carri

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

The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family

Keywords: توالی کامل exome; Autosomal recessive primary microcephaly; Alkylglycerol monooxygenase; Whole exome sequencing; Novel homozygous; Frameshift deletion mutation; Saudi Arabia;

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

Atypical presentation of mucopolysaccharidosis type IVA

Keywords: توالی کامل exome; Mucopolysaccharidosis; Morquio syndrome; Whole exome sequencing; Glycosaminoglycans

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

A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition

Keywords: توالی کامل exome; Aromatic l amino acid decarboxylase (AADC) deficiency; Whole exome sequencing; MAO-B inhibitor; 3-O-methyl-l-dopa (3-OMD);

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

Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism

Keywords: توالی کامل exome; Autosomal recessive juvenile Parkinsonism; Whole exome sequencing; Synaptojanin 1; Mutation screening;

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

Novel CALM3 mutations in pediatric long QT syndrome patients support a CALM3-specific calmodulinopathy

Keywords: توالی کامل exome; Long QT syndrome; Calmodulin; CALM3; Whole exome sequencing;

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

Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 (MED17)

Keywords: توالی کامل exome; Whole exome sequencing; Mediator complex subunit 17; Compound heterozygous mutation; Choreiform movement; Nystagmus

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

Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay

Keywords: توالی کامل exome; whole exome sequencing; genetics; CACNA1A; P/Q-type calcium channel; congenital hypotonia; developmental delay

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

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

Keywords: توالی کامل exome; 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

A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family

Keywords: توالی کامل exome; Whole exome sequencing; Congenital deafness; Algeria

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

Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands

Keywords: توالی کامل exome; Frequency; Leber congenital amaurosis; Mutation; Whole exome sequencing; Sanger sequencing;

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

Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy

Keywords: توالی کامل exome; Hypertrophic cardiomyopathy; Myosin essential light chain; Whole exome sequencing; Bioinformatics

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

Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency

Keywords: توالی کامل exome; Whole exome sequencing; mtDNA depletion; Neurodegenerative disease; TCA cycle; Mitochondrial aconitase deficiency;

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

A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia

Keywords: توالی کامل exome; Whole exome sequencing; ACVR1; Skeletal dysplasia; Fibrodysplasia ossificans progressiva; FOP variant

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

Integrative genomic and functional analysis of human oral squamous cell carcinoma cell lines reveals synergistic effects of FAT1 and CASP8 inactivation

Keywords: توالی کامل exome; Oral squamous cell carcinoma; Caspase 8; FAT1; Whole exome sequencing;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2016 سفارش ترجمه

Characterization of two de novoKCNT1 mutations in children with malignant migrating partial seizures in infancy

Keywords: توالی کامل exome; Early-onset epileptic encephalopathies; MMPSI; KCNT1 gene; Whole exome sequencing; Whole-cell electrophysiology

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

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion

Keywords: توالی کامل exome; MYH7 gene; Fiber-type disproportion; Myopathy; Dropped head sign; Whole exome sequencing; Exon skipping;

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

Dynamical System Modeling to Simulate Donor T Cell Response to Whole Exome Sequencing-Derived Recipient Peptides Demonstrates Different Alloreactivity Potential in HLA-Matched and -Mismatched Donor–Recipient Pairs

Keywords: توالی کامل exome; Stem cell transplantation; Whole exome sequencing; GVHD; Dynamic system; HLA; Logistic equation; Vectors; Operators; Histocompatibility

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2016 سفارش ترجمه

Somatic Embryonic FGFR2 Mutations in Keratinocytic Epidermal Nevi

Keywords: توالی کامل exome; 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

Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient

Keywords: توالی کامل exome; Progressive encephalopathy; Whole exome sequencing; BRAT1; Lethal neonatal rigidity;

دانلود رایگان متن کامل مقاله ISI 16 صفحه سال انتشار : 2016 سفارش ترجمه

Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene

Keywords: توالی کامل exome; Calpain3; CAPN3; Muscular dystrophy; Limb-girdle; Whole exome sequencing; Iran;

دانلود رایگان متن کامل مقاله ISI 19 صفحه سال انتشار : 2016 سفارش ترجمه