Keywords: میکرو تکثیر; Chromosomal microarray; prenatal diagnosis; microdeletion; microduplication; VOUS;
مقالات ISI میکرو تکثیر (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: میکرو تکثیر; chromosomal abnormalities; chromosomal deletion; chromosomal duplication; chromosomal microarray analysis; congenital heart disease; copy number variation; microdeletion; microduplication; prenatal diagnosis;
Keywords: میکرو تکثیر; RTS, Rubinstein–Taybi syndrome; ID, intellectual disability; IUGR, intrauterin growth retardationArray-CGH; Intellectual disability; Facial dysmorphisms; CREBBP; Microduplication; Rubinstein–Taybi
Chromosomal Microarrays for the Prenatal Detection of Microdeletions and Microduplications
Keywords: میکرو تکثیر; Microarray; Cell-free DNA; Microdeletion; Microduplication; Copy number variant; Genetic counseling;
Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5)
Keywords: میکرو تکثیر; Microduplication; FISH; Microarray; Chromosome 5p; Familial
A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis
Keywords: میکرو تکثیر; 2p microdeletion syndrome; Microduplication; Chromosome 2; Developmental delay
Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability
Keywords: میکرو تکثیر; Intellectual disability; Microduplication; XIAP; STAG2; Genome-wide array analysisCASP3, cell-death proteases, caspase-3; CASP7, caspase-7; CNVs, copy number variations; DAPI, 40,6-diamidino-2-phenylindole; DD, developmental delay; FISH, fluorescence in s
ZespóÅ duplikacji MECP2 - opis przypadku
Keywords: میکرو تکثیر; MECP2,Xq28; mikroduplikacja; opóźnienie rozwoju; nawracajÄ
ce infekcje; MECP2,Xq28; Microduplication; Developmental delay; Recurrent infections;
A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate
Keywords: میکرو تکثیر; Microduplication; aCGH; TERT; CLPTM1L; Cleft lip and palate;
Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype
Keywords: میکرو تکثیر; Microduplication; CREBBP; Rubinstein-Taybi syndrome; Genotype-phenotype correlation;
A rare microduplication in a familial case of annular pancreas and duodenal stenosis
Keywords: میکرو تکثیر; Annular pancreas; Duodenal obstruction; Genetic; Microduplication; Familial
A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features – Is cardiac assessment necessary for all patients with 17p13.3 microduplication?
Keywords: میکرو تکثیر; Chromosome 17p13.3; Microduplication; Chromosome aberration; Array comparative genomic hybridization; Dysmorphism; Microcephaly; Aortic stenosis
Rearrangement in 22q11 implicated in Iranian patients with mental retardation
Keywords: میکرو تکثیر; Mental retardation; Chromosome 22; Microdeletion; Microduplication; Semi-quantitative multiplex PCR; MLPA
De novo microduplication at 22q11.21 in a patient with VACTERL association
Keywords: میکرو تکثیر; VACTERL association; 22q11.21; Microduplication; MLPA; SNP array; Cat eye syndrome; Supernumerary der(22)
The Evolving Picture of Microdeletion/Microduplication Syndromes in the Age of Microarray Analysis: Variable Expressivity and Genomic Complexity
Keywords: میکرو تکثیر; Microdeletion; Microduplication; Syndrome; Microarray; 1q21; 15q13; 15q24; 16p13.1; 16p11.2; 17q21.3;
Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy
Keywords: میکرو تکثیر; Bladder exstrophy; 22q11.21; EEC; Microduplication; MLPA; Molecular karyotyping; SNP array
Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome
Keywords: میکرو تکثیر; CGH; CNV; genomic disorders; microdeletion; microduplication; MLPA
An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II
Keywords: میکرو تکثیر; Mucolipidosis type II; I-cell disease; GlcNAc-1-phosphotransferase; GNPTAB; Exon skipping; Exonic Alu insertion; Microduplication; Exon enhancers;