Keywords: AD; autosomal dominant; ADNIV; autosomal dominant neovascular inflammatory vitreoretinopathy; AR; autosomal recessive; AR-1; autosomal recessive-1 allele identified; ARMS; amplification refractory mutation system; AZOOR; acute zonal occult outer retinopat
مقالات ISI (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: DEGs; The differentially expressed genes; CAV3; caveolin 3; CDK4; cyclin-dependent kinase 4; GEO; Expression Omnibus; NCBI; National Center of Biotechnology Information; PPI; protein-protein interaction; EWS-ATF; EWS RNA-binding protein 1-activating trans
Keywords: Triticum aestivum; Salt tolerance; qRT-PCR; Transcriptome; qPCR; quantitative polymerase chain reaction; SOM; self-organizing mapping; EST; expressed sequence tag; EMS; ethyl methyl sulfonate; RNA-Seq; RNA-Sequence; CDD; conserved domain database; Pfam; p
Keywords: ALL; acute lymphoblastic leukemia; AML; acute myeloid leukemia; BWA; Burrows Wheeler Alignment tool; CGH; comparative genomic hybridization; CNV; copy number variations; DGV; database of genomic variants; EGA; European Genome-phenome Archive; FISH; fluore
Keywords: BWA; WiMAX; BR; Unicast polling; Contention request;
Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype
Keywords: Peroxisome biogenesis disorder; Peroxisome biogenesis factor 10 (PEX10); Compound heterozygote; Point mutation; Cerebellar ataxia; Zellweger syndrome; AFP; alpha fetoprotein; BWA; Burrows Wheeler Aligner; DHA; docosahexaenoic acid; dma; dimethyl acetal; F
Compound heterozygous KCNQ1 mutations (A300T/P535T) in a child with sudden unexplained death: Insights into possible molecular mechanisms based on protein modeling
Keywords: aa; amino acid; BWA; Burrows-Wheeler aligner; CaM; calmodulin; CPR; cardiopulmonary resuscitation; DNA; deoxyribonucleic acid; ECG; electrocardiogram; GOF; gain of function; KCNE1; potassium voltage-gated channel subfamily E member 1; Kv7.1; voltage-gated
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease
Keywords: Whole-exome sequencing; Pompe disease; Glycogen storage disease type II; Limb girdle muscular dystrophy; Acid-alpha-1,4-glucosidase deficiency; GAA; ATAV; Analysis Tool for Annotated Variants; BWA; Burrows-Wheeler Aligner; CAP; College of American Patholo
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)
Keywords: Lipodystrophy; POLD1 gene; Whole-exome sequencing; MDPL syndrome; ZnF2; MDPL; Mandibular hypoplasia, deafness, progeroid features and lipodystrophy syndrome; POLD1; Polymerase (DNA directed), delta 1, catalytic subunit; MAD; Mandibuloacral dysplasia; ZMPS
ARHGAP4 mutated in a Chinese intellectually challenged family
Keywords: XLMR; X-linked mental retardation; EEG; Electroencephalogram; MRI; Magnetic resonance imaging; PHA; Phytohemagglutinin; LM-PCR; Ligation-mediated polymerase chain reaction; SNPs; Single nucleotide polymorphisms; InDels; Insertions or deletions; BWA; Burro
Bridging ImmunoGenomic Data Analysis Workflow Gaps (BIGDAWG): An integrated case-control analysis pipeline
Keywords: ALD; asymmetric linkage disequilibrium; BIGDAWG; Bridging ImmunoGenomic Data-Analysis Workflow Gaps; BWA; BIGDAWG web application; DOF; degrees of freedom; GWAS; genome wide association study; HLA; human leukocyte antigen; HWEP; Hardy-Weinberg equilibri
Targeted capture massively parallel sequencing analysis of LCIS and invasive lobular cancer: Repertoire of somatic genetic alterations and clonal relationships
Keywords: Massively parallel sequencing; Invasive lobular carcinoma; Lobular carcinoma in situ; Clonality; Somatic genetic alterations; LCIS; lobular carcinoma in situ; TCGA; The Cancer Genome Atlas; ILC; invasive lobular carcinoma; LOH; loss of heterozygosity; MSK
Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance
Keywords: ACMG; American College of Medical Genetics and Genomics; ADI-R; Autism Diagnostic Interview-Revised; ADOS; Autism Diagnostic Observation Schedule; ANK; ankyrin repeat; ASD; autism spectrum disorder; BDNF; brain derived neurotrophic factor; BWA; Burrows-Wh
A genome survey sequencing of the Java mouse deer (Tragulus javanicus) adds new aspects to the evolution of lineage specific retrotransposons in Ruminantia (Cetartiodactyla)
Keywords: A (nucleotide); adenosine; Ala; alanine; ALPINE; alpaca SINE; BDDF; bovine dimer driven family; BLAT; blast like alignment tool; BLAST; basic local alignment search tool; BovB; bovine RTE element; BWA; Burrows-Wheeler aligner; C (nucleotide); Cytosine;
Viral bioterrorism: Learning the lesson of Ebola virus in West Africa 2013–2015
Keywords: Ebola virus; Bioterrorism; BWA; Hemorrhagic fever; West Africa
The sub-chronic oral toxicity of 1,3,5-trimethylbenzene in Sprague-Dawley rats
Keywords: 123-TMB; 1,2,3-trimethylbenzene; 124-TMB; 1,2,4-trimethylbenzene; 135-TMB; 1,3,5-trimethylbenzene; 5â²-NT; 5â²-nucleotidase; ACGIH; American Conference of Governmental Industrial Hygienists; ALT; alanine aminotransferase; AP; alkaline phosphatase; ASVCP
Comparative analysis of genes encoding key steroid core oxidation enzymes in fast-growing Mycobacterium spp. strains
Keywords: AD; androst-4-ene-3,17-dione; ADD; androsta-1,4-diene-3,17-dione; 9-OH-AD; 9α-hydroxy androst-4-ene-3,17-dione; ORFs; open reading frames; SNP; single nucleotide substitution; CTAB; cetyl trimethyl ammonium bromide; bp; base pair; BWA; Broadband-Wheeler
Molecularly imprinted nanopatterns for the recognition of biological warfare agent ricin
Keywords: MIP; BWA; Ricin; Nanopatterns; Nanopores; Protein
On the design of mobility management scheme for 802.16-based network environment
Keywords: 802.16; BWA; Mobility management; Wireless overlay network; Vertical handoff