دانلود مقالات ISI درباره توالی Exome + ترجمه فارسی

Research paperExome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis

Keywords: توالی Exome; EDTA; ethylenediamine tetraacetic acid; PCR; polymerase chain reaction; SNP; single nucleotide polymorphism; AAA; ATPases associated with various cellular activities; Exome sequencing; Hearing loss; Hypotrichosis; BCS1L gene; Björnstad syndrome;

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

Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2

Keywords: توالی Exome; CHRNB2; Digenic inheritance; Exome sequencing; Fahr's disease; Primary familial brain calcification; SLC20A2

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

Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes

Keywords: توالی Exome; Ataxia; Exome sequencing; Hereditary spastic paraplegia; SPG11; Thin corpus callosum

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

Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest

Keywords: توالی Exome; CMR; cardiac magnetic resonance; CPVT; catecholaminergic polymorphic ventricular tachycardia; ECG; electrocardiogram; ICD; implantable cardioverter-defibrillator; LQTS; long QT syndrome; MYH6; myosin heavy chain 6 gene; PPM; permanent pacemaker; SNV; sing

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

Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency

Keywords: توالی Exome; AA; amino acid; CT; computed tomography; MAF; minor allele frequency; MRI; magnetic resonance imaging; ROH; runs of homozygosity; SAH; S-adenosylhomocysteine; SAM; S-adenosylmethionine; Hepatocellular carcinoma; Methionine; AHCY; Exome sequencing; Genetic

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

Loss of ADAM17 is associated with severe multiorgan dysfunction

Keywords: توالی Exome; ADAM17; Exome sequencing; Congenital enteropathy; Immunodeficiency; Inflammation

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

Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature

Keywords: توالی Exome; Brachydactyly; PTHLH gene; Exome sequencing; Mutation; Signal peptide;

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

Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities

Keywords: توالی Exome; STYXL1; Consanguineous; Linkage; Exome sequencing

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

De novo mutations from sporadic schizophrenia cases highlight important signaling genes in an independent sample

Keywords: توالی Exome; Schizophrenia; De novo; PTPRG: rare variant; Paternal age; Exome sequencing;

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

A novel missense mutation of RYR1 in familial idiopathic hyper CK-emia

Keywords: توالی Exome; Hyper CK-emia; Creatine kinase; Autosomal dominant; Exome sequencing; Ryanodine receptor; Malignant hyperthermia;

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

Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study

Keywords: توالی Exome; Bronchopulmonary dysplasia; Exome sequencing; Genetics;

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

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families

Keywords: توالی Exome; OI; Autosomal recessive; SERPINF1; PPIB; CRTAP; WNT1; Homozygosity; Exome sequencing; Consanguinity; India

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

Candidate gene analysis and exome sequencing confirm LBX1 as a susceptibility gene for idiopathic scoliosis

Keywords: توالی Exome; Idiopathic scoliosis; Genetics; Ethiology; LBX1; Association study; Exome sequencing; Adolescent; Juvenile;

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

A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD)

Keywords: توالی Exome; Exome sequencing; Familial glucocorticoid deficiency; NNT; Mutation; Review

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

Drosophila and experimental neurology in the post-genomic era

Keywords: توالی Exome; Drosophila melanogaster; Animal model; Genomics; Genome-wide association study; Exome sequencing; Epistasis; Neurology; Complex genetics; Mendelian disease

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

Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome

Keywords: توالی Exome; TGFB3; Tall stature; Bifid uvula; Marfan syndrome; Loeys-Dietz syndrome; Exome sequencing;

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

Circulating Tumor DNA Analysis for Liver Cancers and Its Usefulness as a Liquid Biopsy

Keywords: توالی Exome; Circulating Tumor DNA; Exome Sequencing; Hepatocellular Carcinoma; Whole-Genome SequencingAFP, α-fetoprotein; ALT, alanine aminotransferase; AST, aspartate aminotransferase; cHCC/CC, combined hepatocellular and cholangiocarcinoma; ctDNA, circulating tumor

دانلود رایگان متن کامل مقاله ISI 19 صفحه سال انتشار : 2015 سفارش ترجمه

Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum

Keywords: توالی Exome; Exome sequencing; SPOCK1 mutation; Developmental delay; Microcephaly; Agenesis of corpus callosumMRI, Magnetic resonance imaging

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

Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings

Keywords: توالی Exome; Cardiomyopathy; Alström syndrome; ALMS1; Exome sequencing; Ciliopathy

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

Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy

Keywords: توالی Exome; Limb-girdle muscular dystrophy; DNAJB6; Exome sequencing

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

Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis

Keywords: توالی Exome; Exome sequencing; CTSK; Sclerosing bone disorder; Differential diagnosis; Therapy;

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

Case reportGNE myopathy associated with congenital thrombocytopenia: A report of two siblings

Keywords: توالی Exome; GNE; Distal myopathy with rimmed vacuoles; Sialic acid; UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; Thrombocytopenia; Exome sequencing;

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

Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease

Keywords: توالی Exome; Alzheimer's disease; Neurodegenerative dementia; APP; PSEN1; PSEN2; MAPT; GRN; PRNP; Exome sequencing;

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

Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations

Keywords: توالی Exome; Exome sequencing; ZFPM2; Congenital diaphragmatic hernia; CDH; Diaphragm eventration

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

Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations

Keywords: توالی Exome; Alpha-dystroglycanopathies; Epilepsy; Muscular dystrophy; GMPPB; Glycosylation; Exome sequencing

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

Multi-perspective quality control of Illumina exome sequencing data using QC3

Keywords: توالی Exome; Quality control; Exome sequencing; Raw data; Alignment; Variant call;

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

Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis

Keywords: توالی Exome; NDRG4 gene; Myofibromatosis; Exome sequencing; Congenital generalized fibromatosis; Neoplasms;

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

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation

Keywords: توالی Exome; Cornelia de Lange Syndrome; CdLS; HEAT repeat; Ipsilateral; Musculoskeletal involvement; NIPBL mutation; BHLHA9 duplication; Exome sequencing

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

Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia

Keywords: توالی Exome; Exome sequencing; PIGN; Congenital Diaphragmatic Hernia; CDH; GPI anchor

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

Deep Sequencing Reveals Lack of a Clonal Relationship Between a Metachronous Classical Hodgkin and Diffuse Large B-Cell Lymphoma

Keywords: توالی Exome; Composite Hodgkin/non-Hodgkin lymphoma; Exome sequencing;

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

A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence

Keywords: توالی Exome; calmodulin; exome sequencing; genetics; idiopathic ventricular fibrillation; ventricular arrhythmiaCaM, calmodulin; CPVT, catecholaminergic polymorphic ventricular tachycardia; DNA, deoxyribonucleic acid; ECG, electrocardiogram/electrocardiographic; ICD,

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

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

Keywords: توالی Exome; SCN8A; Nav1.6; Epileptic encephalopathy; Exome sequencing; Patch-clamp;

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

Original ResearchBrief ReportGermline Mutation of RPS20, Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency

Keywords: توالی Exome; Colon Cancer; Hereditary Nonpolyposis Colorectal Cancer; Ribosome; Exome Sequencing; FCCX; hereditary nonpolyposis colorectal cancer type X; rRNA; ribosomal RNA;

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

Suggestive linkage of familial mesial temporal lobe epilepsy to chromosome 3q26

Keywords: توالی Exome; Temporal lobe epilepsy; Neurogenetics; Linkage analysis; Exome sequencing;

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

Prenatal management of the fetus with isolated congenital diaphragmatic hernia in the era of the TOTAL trial

Keywords: توالی Exome; Congenital diaphragmatic hernia; Pulmonary hypoplasia; Fetal surgery; Tracheal occlusion; Chromosomal microarrays; Exome sequencing

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

A nonsense mutation in PRNP associated with clinical Alzheimer's disease

Keywords: توالی Exome; Alzheimer's disease; Prion; PRNP; Nonsense mutation; Exome sequencing;

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

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

Keywords: توالی Exome; MTFMT; Mitochondrial translation; OXPHOS deficiency; Exome sequencing; Leigh syndrome

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

HCN4 Mutations in Multiple Families With Bradycardia and Left Ventricular Noncompaction Cardiomyopathy

Keywords: توالی Exome; exome sequencing; genetics; HCN4; ion channel; left ventricular noncompaction cardiomyopathy; sinus bradycardiacDNA, complementary deoxyribonucleic acid; CHO, Chinese hamster ovary; ECG, electrocardiogram; GoNL, Genome of the Netherlands; ICD, implantable

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2014 سفارش ترجمه

Mutation in CYP27A1 identified in family with coronary artery disease

Keywords: توالی Exome; Coronary artery disease; Exome sequencing; CYP27A1; Reverse cholesterol transport;

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

Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Keywords: توالی Exome; EMARDD; MEGF10; SNP array; Exome sequencing; Deletion analysis; Myopathy;

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

Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene

Keywords: توالی Exome; Congenital structural myopathies; Nemaline myopathies; Cap disease; Exome sequencing;

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

Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density

Keywords: توالی Exome; Bone mineral density; Children; Exome sequencing; Fractures; Juvenile osteoporosis;

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

Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C

Keywords: توالی Exome; NPC; Niemann-Pick type C; NPC1; NPC1 gene; NPC2; NPC2 gene; SMPD1; sphingomyelin phosphodiesterase 1 gene; LDL; low density lipoprotein; HGMD; The Human Gene Mutation Database; ALS; amyotrophic lateral sclerosis; DTR; deep tendon reflex; MRI; magnetic r

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

Lessons in biology from patients with inborn errors of vitamin B12 metabolism

Keywords: توالی Exome; Vitamin B12; Cobalamin; Exome sequencing; Mendelian disorders

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

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings

Keywords: توالی Exome; TWINKLE; Liver; Cerebral; Exome sequencing; Renal and multisystem disease;

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

Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing

Keywords: توالی Exome; Inflammatory bowel disease; Crohn's disease; IL10RA; IL10; Hematopoietic stem cell transplantation; Colitis; Exome sequencing

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

Exome Sequencing of Prostate Cancer Supports the Hypothesis of Independent Tumour Origins

Keywords: توالی Exome; Prostate cancer; Exome sequencing; Multifocal; Heterogeneity

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2013 سفارش ترجمه

The Mitochondrial and Autosomal Mutation Landscapes of Prostate Cancer

Keywords: توالی Exome; Prostate cancer; Exome sequencing; Proliferation; Copy number; Indolence

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2013 سفارش ترجمه

ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing

Keywords: توالی Exome; ATRX mutation; ATR-X syndrome; Exome sequencing; Intellectual disability; Non-specific phenotype

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2013 سفارش ترجمه

Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V

Keywords: توالی Exome; Early onset Alzheimer's disease; Adult neuronal ceroid lipofuscinosis; Exome sequencing; Presenilin1; Ataxia; Cathepsin D

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