Keywords: توالی کامل exome; GATK; Genome Analysis Toolkit; HGMD; Human Mutation Database; IRB; institutional review board; VUS; variants of uncertain significance; WES; whole-exome sequencing;
مقالات ISI توالی کامل exome (ترجمه نشده)
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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 کامل exome; Neurodevelopmental disorders; Autism spectrum disorders; Genetics; Copy number variants; Chromosomal microarray; Whole-exome sequencing;
Keywords: توالی کامل exome; AAP; American Academy of Pediatrics; ACMG; American College of Medical Genetics and Genomics; SOB; Section on Bioethics; SOG; Section on Genetics and Birth Defects; WES; Whole-exome sequencing; WGS; Whole-genome sequencing;
Keywords: توالی کامل exome; CL; curvilinear bodies; DBS; dried blood spots; EM; transmission electron microscopy; FP; fingerprint profiles; GRODs; granular osmiophilic deposits; LM; light microscopy; NCL; neuronal ceroid lipofuscinoses disorders; NGS; Next Generation Sequencing tech
Keywords: توالی کامل exome; Molecular Classification; Genomic Profiling; Outcome; Targeted Therapies; CI; confidence interval; CNV; copy number variations; EGFR; epidermal growth factor receptor; EpCAM; epithelial cellular adhesion molecule; FDR; false discovery rate; FF; fresh-froz
Keywords: توالی کامل exome; Whole-exome sequencing; Mutation; Collagen; Extracellular matrix;
Keywords: توالی کامل exome; Primary immunodeficiencies; whole-genome sequencing; whole-exome sequencing; linkage analysis; homozygosity mappingCMC, Chronic mucocutaneous candidiasis; ED-ID, Ectodermal dysplasia and immunodeficiency; HSE, Herpes virus encephalitis; IL-2Rγ, IL-2 recep
Keywords: توالی کامل exome; Whole-exome sequencing; Somatic mutation network; Cancer;
Keywords: توالی کامل exome; DBSS; dried blood spot samples; gDNA; genomic DNA; wgaDNA; whole-genome amplified DNA; DNSB; Danish Newborn Screening Biobank; NGS; next generation sequencing; WGS; whole-genome sequencing; WES; whole exome sequencing; SNV; single nucleotide variation; SN
Keywords: توالی کامل exome; Late infantile neuronal ceroid lipofudcinosis; CLN6; Whole-exome sequencing
Keywords: توالی کامل exome; PEHO; encephalopathy; whole-exome sequencing; optic atrophy; neurodevelopmental disorder
Keywords: توالی کامل exome; Affected siblings; Case-control study; Rare truncating variations; Schizophrenia; Whole-exome sequencing
Keywords: توالی کامل exome; Immunology; primary immunodeficiency; nuclear factor κB; autoimmunity; intravenous immunoglobulin; common variable immunodeficiency; severe combined immunodeficiency; newborn screening; gene therapy; ADA; Adenosine deaminase; ADAM; A disintegrin and meta
Large-scale Sequencing of Testicular Germ Cell Tumour (TGCT) Cases Excludes Major TGCT Predisposition Gene
Keywords: توالی کامل exome; Testicular germ cell tumour; Whole-exome sequencing; Cancer susceptibility; Heritability; Genetics;
A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever
Keywords: توالی کامل exome; Alternating hemiplegia of childhood; ATP1A3; Ataxia; Whole-exome sequencing;
Functional implications of a rare variant in the sodium channel β1B subunit (SCN1B) in a 5-month-old male sudden infant death syndrome case
Keywords: توالی کامل exome; Cardiac channelopathy; Electrophysiological analysis; SCN1B; Sudden infant death syndrome; Whole-cell patch clamp; Whole-exome sequencing;
Utilization of Genomics and Functional Genomics to Inform Clinical Decisions in IR
Keywords: توالی کامل exome; lncRNA; long noncoding RNA; LRT; locoregional therapy; miRNA; microRNA; RNA-Seq; RNA sequencing; WES; whole-exome sequencing; WGS; whole-genome sequencing;
Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes
Keywords: توالی کامل exome; TBK1; PSP; Ataxia; Whole-exome sequencing; Genetic screening; FTD;
Genetic contribution of SUN5 mutations to acephalic spermatozoa in Fujian China
Keywords: توالی کامل exome; WES; whole-exome sequencing; ODF1; outer dense fiber 1; ExAC; Exome Aggregation Consortium; SNP; single nucleotide polymorphism; WB; western blot; IF; immunofluorescence; Acephalic spermatozoa; SUN5; Whole-exome sequencing; ODF1;
Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome
Keywords: توالی کامل exome; CAGSSS; Whole-exome sequencing; Leigh syndrome; West syndrome; Mitochondrial disease;
TDRD6 is associated with oligoasthenoteratozoospermia by sequencing the patient from a consanguineous family
Keywords: توالی کامل exome; OAT; oligoasthenoteratozoospermia; WES; whole-exome sequencing; ICSI; intracytoplasmic sperm injection; IVF; in vitro fertilization; ExAC; Exome Aggregation Consortium; gnomAD; genome Aggregation Database; dbSNP; Short Genetic Variations database; 1000G;
A matrix metalloproteinase 9 (MMP9) gene single nucleotide polymorphism is associated with predisposition to tick-borne encephalitis virus-induced severe central nervous system disease
Keywords: توالی کامل exome; Tick-borne encephalitis (TBE); Genetic predisposition; Matrix metalloproteinase 9 (MMP9) gene; Single nucleotide polymorphism (SNP); Whole-exome sequencing;
Speech and language delay in a patient with WDR4 mutations
Keywords: توالی کامل exome; WDR4; Primordial dwarfism (PD); Mutation; Whole-exome sequencing;
Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum
Keywords: توالی کامل exome; Intellectual disability; Epileptic encephalopathy; Seizure; Whole-exome sequencing;
Research Techniques Made Simple: Genome-Wide Homozygosity/Autozygosity Mapping Is a Powerful Tool for Identifying Candidate Genes in Autosomal Recessive Genetic Diseases
Keywords: توالی کامل exome; AR; autosomal recessive; EB; epidermolysis bullosa; GATK; Genome Analysis Toolkit; HM; homozygosity mapping; Mb; mega base pair; NGS; next-generation sequencing; ROH; region of homozygosity; SNP; single nucleotide polymorphism; WES; whole-exome sequencing
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis
Keywords: توالی کامل exome; GM1 gangliosidosis; GLB1; Whole-exome sequencing; Aspartate transaminase;
Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane
Keywords: توالی کامل exome; AMD; age-related macular degeneration; ARMS2; Age-Related Maculopathy Susceptibility 2; ANNOVAR; Annotate Variation; CADD; Combined Annotation Dependent Depletion; CFH; complement factor H; CFI; complement factor I; CMC; Combined Multivariate and Collaps
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia
Keywords: توالی کامل exome; Methylmalonic acidemia; Whole-exome sequencing; De novo mutation; CDKL5; Early-onset epileptic encephalopathy;
Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion
Keywords: توالی کامل exome; 22q13 deletion syndrome; Autoimmunity; PIK3CD gene; Whole-exome sequencing;
Genome-wide sequencing expands the phenotypic spectrum of EP300 variants
Keywords: توالی کامل exome; EP300; Rubinstein-Taybi syndrome; Whole-exome sequencing; Whole-genome sequencing; Lipomyelomeningocele; Choanal atresia; Hyperinsulinism; Tumour screening;
A novel mutation in HAUS7 results in severe oligozoospermia in two brothers
Keywords: توالی کامل exome; SO; severe oligozoospermia; WES; whole-exome sequencing; IVF; in vitro fertilization; ICSI; intracytoplasmic sperm injection; NOA; non-obstructive azoospermia; FSH; follicle-stimulating hormone; LH; luteinizing hormone; T; testosterone; PRL; prolactin; E2
Familial Esophageal Squamous Cell Carcinoma with damaging rare/germline mutations in KCNJ12/KCNJ18 and GPRIN2 genes
Keywords: توالی کامل exome; Familial Esophageal Squamous Cell Carcinoma; Whole-Exome Sequencing; germline mutation; genetic predisposition; environmental factor;
A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder
Keywords: توالی کامل exome; Early-onset epileptic encephalopathy (EOEE); GABRA2 gene; de novo mutation; Whole-exome sequencing; EOEE; early onset epileptic encephalopathy; GABA; gamma aminobutyric acid;
A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B)
Keywords: توالی کامل exome; MYH3; Sheldon-Hall syndrome; Whole-exome sequencing; Sanger sequencing; Distal arthrogryposis;
Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema
Keywords: توالی کامل exome; Hereditary angioedema; angiopoietin-1; gene; mutation; multimers; tunica interna endothelial cell kinase 2 receptor; ANGPT1; Angiopoietin-1; ANGPT2; Angiopoietin-2; C1-INH; C1 inhibitor; C1-INH-HAE; Hereditary angioedema caused by C1 inhibitor deficiency;
Whole-exome sequencing identified mutational profiles of squamous cell carcinomas of anus
Keywords: توالی کامل exome; Anus; Cancer; Squamous cell carcinoma; Mutation signature; Whole-exome sequencing; Copy number alteration;
Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer
Keywords: توالی کامل exome; Colon Cancer; Familial Colorectal Cancer; Protein Translation; Mechanism; CRC; colorectal cancer; LOH; loss of heterozygosity; MAF; minor allele frequency; miRNA; microRNA; MMR; DNA mismatch repair; PBS; phosphate-buffered saline; PCR; polymerase chain re
Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype
Keywords: توالی کامل exome; GIRK; G protein-gated inwardly rectifying K+; KIR; inwardly rectifying potassium; SNc; substantia nigra compacta; WES; whole-exome sequencing; KCNJ6; weaver mouse; movement disorder; channelopathy; inward rectifier; KIR3;
Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11)
Keywords: توالی کامل exome; Caspase activation and recruitment domain family member 11; combined immunodeficiency; hypogammaglobulinemia; nuclear factor κB; cytokine secretion; T-cell repertoire; T-cell mitogen and antigen responses; autoimmunity; asthma; eczema and food allergies;
Molecular genetics âcharacterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia
Keywords: توالی کامل exome; CHM; choroideremia; RPE; retinal pigment epithelium; REP-1; Rab escort protein-1; VA; visual acuity; OCT; optical coherence tomography; GGTase; geranylgeranyltransferase; ONL; outer nuclear layer; INL; inner nuclear layer; LCHADD; long-chain 3-hydroxyacyl
The Molecular Revolution in Cutaneous Biology: Era of Next-Generation Sequencing
Keywords: توالی کامل exome; NGS; next-generation sequencing; WES; whole-exome sequencing;
Case reportSevere hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy
Keywords: توالی کامل exome; Type I collagenopathy; COL1A1; Whole-exome sequencing; Dysmorphism; Osteogenesis imperfecta;
Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing
Keywords: توالی کامل exome; d-Bifunctional protein deficiency; HSD17B4; Whole-exome sequencing; Hearing impairment; Peripheral neuropathy; Cerebellar ataxia;
Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations
Keywords: توالی کامل exome; Acute lymphoblastic leukemia; autoimmune disease; B-cell deficiency; common lymphoid progenitor; DNA binding; dysgammaglobulinemia; germline mutation; Ikaros; IKZF1; nuclear localization; BCP-ALL; B-cell precursor acute lymphoblastic leukemia; CLP; Common
Immune defects caused by mutations in the ubiquitin system
Keywords: توالی کامل exome; Ubiquitin; nuclear factor κB; immunodeficiency; CVID; Common variable immunodeficiency; DUB; Deubiquitinating enzyme; EDA-ID; Ectodermal dysplasia with immunodeficiency; HECT; Homologous to EGAP C-terminus; HOIL-1; Heme-oxidase iron responsive element bi
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma
Keywords: توالی کامل exome; arRP; autosomal recessive retinitis pigmentosa; CME; cystoid macular edema; IRD; inherited retinal disease; LCA; Leber congenital amaurosis; NAD; nicotinamide adenine dinucleotide; OCT; optical coherence tomography; RP; retinitis pigmentosa; RPE; retinal
Neurology Individualized Medicine: When to Use Next-Generation Sequencing Panels
Keywords: توالی کامل exome; ACMG; American College of Medical Genetics and Genomics; bp; base pair; CNV; copy number variation; HGMD; Human Gene Mutation Database; NGS; next-generation sequencing; OMIM; Online Mendelian Inheritance in Man; WES; whole-exome sequencing; WGS; whole-gen
CRISPR/Cas9 Engineering of Adult Mouse Liver Demonstrates That the Dnajb1-Prkaca Gene Fusion Is Sufficient to Induce Tumors Resembling Fibrolamellar Hepatocellular Carcinoma
Keywords: توالی کامل exome; Liver Cancer; Protein Kinase A; PKA; Genomic Engineering; Mouse Model; CEA; carcinoembryonic antigen; CRISPR/Cas9; clustered regularly interspaced short palindromic repeats/CRISPR-associated 9; FACS; fluorescence-activated cell sorting; FL-HCC; fibrolamel
Novel compound heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome based on whole exome sequencing
Keywords: توالی کامل exome; Zellweger syndrome; Whole-exome sequencing; PEX1; Newborn;
Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing
Keywords: توالی کامل exome; ADNSHL; autosomal dominant non-syndromic hearing loss; CRISPR; clustered regularly interspaced short palindromic repeats; CV; consensus values; DNA; deoxyribonucleic acid; HHL; hereditary hearing loss; HL; hearing loss; HSF; Human Splicing Finder; IHCs; i