Keywords: موزاییکایی سومی; Somatic mosaicism; Brain development; Mutation; Retrotransposition;
مقالات ISI موزاییکایی سومی (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: موزاییکایی سومی; mosaicism; somatic mosaicism; postzygotic mutation; transmission genetics; recurrence risk
Keywords: موزاییکایی سومی; Genetics of vascular malformations; Sporadic; Familial; Somatic mosaicism
Keywords: موزاییکایی سومی; Pediatric rheumatology; Somatic mosaicism; Genome-wide association study; Targeted deep resequencing; miRNA; lncRNA
Keywords: موزاییکایی سومی; DCX; Somatic mosaicism; Lissencephaly; Double cortex; Subcortical band heterotopia; Functional study; Doublecortin; Microtubule
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene
Keywords: موزاییکایی سومی; RAB39B; Parkinsonism; Intellectual Disability; Somatic mosaicism;
Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq
Keywords: موزاییکایی سومی; Next-generation sequencing (NGS); Somatic mosaicism; Primary immunodeficiency diseases (PIDs); Amplicon sequencing; Multiplex PCR;
The Alu neurodegeneration hypothesis: A primate-specific mechanism for neuronal transcription noise, mitochondrial dysfunction, and manifestation of neurodegenerative disease
Keywords: موزاییکایی سومی; Alternative splicing; Alzheimer's disease; Epigenetics; H3K9; Inflammation; LINE; Neuroepigenetics; Nonsense-mediated decay; Parkinson's disease; Retrotransposon; SINE; Somatic mutation; Somatic mosaicism; Spliceosome; A-to-I editing;
A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients
Keywords: موزاییکایی سومی; Myotonic dystrophy; Somatic mosaicism; Modifier gene; DNA mismatch repair; Simple sequence repeat; Trinucleotide repeat
Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing
Keywords: موزاییکایی سومی; CDKL5; Early infantile epileptic encephalopathy (EIEE); Somatic mosaicism; Next-generation sequencing; Double mutations
A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain
Keywords: موزاییکایی سومی; Blaschko lines; embryonic craniofacial development; facial pattern; guanine nucleotide-binding protein alpha-q (GNAQ) gene; leptomeningeal angiomata; magnetic resonance imaging; somatic mosaicism; Sturge-Weber syndrome; upper facial port-wine stainMRI, ma
A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother
Keywords: موزاییکایی سومی; Hereditary spastic paraplegia; SPG4; SPAST; Somatic mosaicism; Genetic testing; De novo mutation;
Intermediate phenotypes in patients with autosomal dominant hyper-IgE syndrome caused by somatic mosaicism
Keywords: موزاییکایی سومی; Somatic mosaicism; autosomal dominant hyper-IgE syndrome; Job syndrome; signal transducer and activator of transcription 3AD-HIES, Autosomal dominant hyper-IgE syndrome; CMC, Chronic mucocutaneous candidiasis; CT, Computed tomography; Ct, Cycle threshold;
Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male
Keywords: موزاییکایی سومی; Rett Syndrome; MECP2; Somatic mosaicism; Male patient
Somatic gene mutation and human disease other than cancer: An update
Keywords: موزاییکایی سومی; Somatic mosaicism; Revertant mosaicism; Genomic sequencing; Germ-line mutation; Germ-line; Mosaicism
Somatic mosaicism in the Wiskott-Aldrich syndrome: Molecular and functional characterization of genotypic revertants
Keywords: موزاییکایی سومی; Somatic mosaicism;; Somatic reversion;; Immunodeficiency;
Somatic Mosaicism of Androgen Receptor CAG Repeats in Colorectal Carcinoma Epithelial Cells From Men
Keywords: موزاییکایی سومی; colorectal cancer; androgen receptor; somatic mosaicism; CAG repeats; microsatellite instability; laser capture microdissection
Fanconi anemia and its diagnosis
Keywords: موزاییکایی سومی; Fanconi anemia diagnosis; Congenital anomalies; Hematologic abnormalities; Cancer predisposition; DNA crosslink sensitivity; Somatic mosaicism
Paradoxical delay in the onset of disease caused by super-long CAG repeat expansions in R6/2 mice
Keywords: موزاییکایی سومی; Somatic mosaicism; Huntingtin; Protein aggregation; DNA instability; Mismatch repair
Importance of Investigating Somatic and Germline Mutations in Hemophilia A: A Preliminary Study from All India Institute of Medical Sciences, India
Keywords: موزاییکایی سومی; Somatic mosaicism; Hemophilia A; Allele Specific PCR; Germ-line; Point mutations
Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer
Keywords: موزاییکایی سومی; Pyruvate dehydrogenase; Pyruvate dehydrogenase deficiency; PDHA1 gene; Somatic mosaicism; Synonymous mutations; Aberrant splicing; SRp55 binding
Homozygosity for MECP2 gene in a girl with classical Rett syndrome
Keywords: موزاییکایی سومی; Homozygosity; Rett syndrome; Somatic mosaicism
Inherited CAG·CTG allele length is a major modifier of somatic mutation length variability in Huntington disease
Keywords: موزاییکایی سومی; Huntington disease; Somatic mosaicism; Genetic instability; Triplet repeat expansion; DNA mutation; Mutation detection;