Keywords: توالی Exome; Downs syndrome; Exome sequencing; Chromosomal analysis; Genes; Genetics;
مقالات ISI توالی Exome (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: توالی Exome; Growth; Short stature; Genomics; Exome sequencing; Copy number variation;
Keywords: توالی Exome; HDL-C; Hyperalpha; HALP; CAD; Exome sequencing; cardioprotection;
Keywords: توالی Exome; Exome sequencing; Genetic testing; Patient-doctor communication; Social utility;
Keywords: توالی Exome; Ovarian germ cell tumors; Exome sequencing; Copy number; Mutation rate; KIT; PI3K-AKT-PTEN pathway;
Keywords: توالی Exome; Prenatal diagnosis; Monogenic disorders; Non-invasive prenatal diagnosis; Cell-free fetal DNA; Single gene disorders; Exome sequencing; Fetal abnormalities;
Keywords: توالی Exome; African Americans; chronic kidney disease; end-stage kidney disease; exome sequencing; genetics; type 2 diabetes;
Keywords: توالی Exome; Exome sequencing; Rare variants; Lung cancer; Susceptibility loci;
Keywords: توالی Exome; Apert syndrome; Craniosynostosis; Exome sequencing; FGFR2 gene; Parent-child trio study;
Keywords: توالی Exome; DCM; dilated cardiomyopathy; SIFT; Sorting Intolerant from Tolerant; CADD; Combined Annotation Depletion Dependent; GWAS; genome wide association studies; NGS; Next Generation DNA sequencing; ExAC; Exome Aggregation Consortium; SNV; Single Nucleotide Vari
Keywords: توالی Exome; Lung adenocarcinoma; Never smoker; Women; Exome sequencing; Early onset; Genetic predisposition to cancer;
Keywords: توالی Exome; Osteogenesis imperfecta; Low bone mineral density; Multiple fractures; Gene panel; Collagen; Exome sequencing;
Keywords: توالی Exome; Neuronal migration; Cortical malformations; Lissencephaly; Tubulinopathies; Heterotopia; Microcephaly; Polymicrogyria; Atypical rare mutations; Exome sequencing; Human in vitro cultures; ZIKV;
Keywords: توالی Exome; Monozygotic twins; Down syndrome; Discordance; Exome sequencing; TGFBR2; ITPR1; RYR2;
Keywords: توالی Exome; TAAR1; Psychiatry; Exome sequencing; Rare variants; SNPs; Association;
Keywords: توالی Exome; secondary findings; gene panels; exome sequencing; WES; Whole exome sequencing;
Keywords: توالی Exome; Androgen receptor; CYP17A1; Disorders of sex development; Exome sequencing; SRD5A2; DSD; disorders of sex development; NGS; next-generation sequencing; VUS; variants of uncertain clinical significance;
Keywords: توالی Exome; Colon Cancer; Inherited; Germline; Exome Sequencing; CRC; colorectal cancer; MAF; minor alelle frequency; WES; whole-exome sequencing;
Keywords: توالی Exome; Food addiction; Genetics; Exome sequencing; Candidate gene association analysis;
Keywords: توالی Exome; Exome sequencing; Diagnostic turnaround time; Undiagnosed genetic conditions; WES; Whole Exome Sequencing; WGS; Whole Genome Sequencing; ID; Intellectual Deficiency;
Keywords: توالی Exome; Genetic testing; Exome sequencing; Whole genome sequencing; Mendelian disease; Genetic counseling; Incidental findings;
Keywords: توالی Exome; Short stature; Genetic causes; Growth plate; Genome-wide association study; Exome sequencing;
Keywords: توالی Exome; Exome sequencing; Targeted sequencing; DNA copy number variations; CNVs; Single nucleotide variants; SNVs; Chromosomal imbalances;
Keywords: توالی Exome; Alzheimer disease; Early-onset dementia; Tau; TDP-43; LRRK2; Exome sequencing;
Keywords: توالی Exome; Handedness; Asymmetry; Linkage; Exome sequencing; Consanguineous;
Keywords: توالی Exome; Alzheimer’s disease; Parkinson’s disease; Genetics; Genome-wide association; Exome sequencing
Keywords: توالی Exome; Genomics; Cohort studies; Genotyping; Exome sequencing; Whole-genome sequencing; Veterans;
Keywords: توالی Exome; Alzheimer's disease; AD; DNA methylation; GWAS; EWAS; Exome sequencing
Keywords: توالی Exome; Genetic predisposition to disease; colorectal neoplasms; age of onset; exome sequencing
Keywords: توالی Exome; Copy number; Exome sequencing; Germ cell tumor; KIT; KRAS; Somatic mutation; Testicular cancer;
Keywords: توالی Exome; Schizophrenia; Sporadic; De novo; ARMS; Kidins220; Rare variant; Neurotrophin; Exome sequencing;
Keywords: توالی Exome; Air pollution; Lung cancer; Whole genome sequencing; Exome sequencing; Exposure
Keywords: توالی Exome; Genetic testing; Perinatal diagnostics; Clinical genetics; Neonatal diagnostics; Exome sequencing;
Keywords: توالی Exome; Primary aldosteronism; Exome sequencing; KCNJ5; ATP1A1; ATP2B3; CACNA1D
Keywords: توالی Exome; Myeloid malignancy; Patient prognosis; Mutation; Exome sequencing; Random forests;
Keywords: توالی Exome; Consanguinity; Exome sequencing; Preconception carrier screening; Autosomal recessive disorders;
Keywords: توالی Exome; MRCD; mitochondrial respiratory chain disorder; BN-PAGE; blue native polyacrylamide gel electrophoresis; iPS; induced pluripotent stem cells; LIMD; lethal infantile mitochondrial disease; LCSH; Long Contiguous Stretch of Homozygosity; Mitochondrial respir
Keywords: توالی Exome; Chromosomal microarray; Exome sequencing; Next-generation sequencing; Non-invasive prenatal screening; Preimplantation genetic testing
Keywords: توالی Exome; Head and neck cancer; Next generation sequencing; Exome sequencing; Somatic mutations; Recurrent mutations
Keywords: توالی Exome; Exome sequencing; Galactosialidosis; Protective protein cathepsin A
Keywords: توالی Exome; Typical carcinoid; Neuroendocrine cells; Lung cancer; Atypical carcinoid; Exome sequencing; Cell line generation
Keywords: توالی Exome; autism genetics; autism spectrum disorder; copy number variant; exome sequencing; intellectual disability; single nucleotide variant
Keywords: توالی Exome; exome sequencing; loss-of-function; molecular medicine; population genetics; sequence variants
Keywords: توالی Exome; Targeted gene sequencing; Exome sequencing; Autosomal recessive; Neurologic Mendelian disorders; Genetic diagnostic strategy;
Keywords: توالی Exome; Whole-genome sequencing; Exome sequencing; RNA-Seq; Bioinformatics; FFPE; Tumor heterogeneity; Clinical applications;
Keywords: توالی Exome; ROHHAD; Hypocretin; Orexin; Narcolepsy; Genes; Mutations; Next-generation sequencing; Exome sequencing; Obesity; Hypoventilation; Hyothalamic dysfunction; Autonomic dysregulation; HCRT; HCRTR1; HCRTR2
Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability
Keywords: توالی Exome; SERAC1; 3-Methylglutaconic acid; MEGDEL syndrome; Hepatopathy; Exome sequencing;
Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders
Keywords: توالی Exome; Exome sequencing; Dystonia; Ataxia; MRI; Recessive; Consanguineous;
Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement
Keywords: توالی Exome; Frontotemporal dementia; TREM2; Genetics; Exome sequencing;
Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies
Keywords: توالی Exome; LCSH/ROH; Ciliopathies; SPAG17; WDR35; SNP arrays; Exome sequencing;