Keywords: Autism spectrum disorder; Chromosome microarray analysis; Diagnostic yield; Global developmental delay; SNP microarray; DSM-5; Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition; ID; Intellectual Disability; ISCA; International Standards
مقالات ISI (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: CCD; carotenoid cleavage dioxygenase; CGH; comparative genome hybridization; CNV; copy number variant/variation; CWR; crop wild relative; eQTL; expression quantitative trait locus; InDels; insertions/deletions; LD; linkage disequilibrium; mGWAS; metabolic
Keywords: DSB; double-strand breaks; HR; homologous recombination; ssDNA; single-stranded DNA; NAHR; non-allelic homologous recombination; SSA; single-strand annealing; VDE; VMA1-derived homing endonuclease; NHEJ; nonhomologous end joining; MMEJ; microhomology-medi
Keywords: Chromosome condensation; Endoreplication; Genome chaos; Replication; Re-replication; APC; Anaphase Promoting Complex; BIR; Break-induced replication; DPP; developmentally programmed polyploidy; GCS; generalized chromosome shattering; GINS; go-ichi-ni-san;
Associations of GBP2 gene copy number variations with growth traits and transcriptional expression in Chinese cattle
Keywords: CNVs; Copy number variations; AJ; Angusâ¯Ãâ¯Jiaxian cattle; CDM; Chaidamu cattle; CJ; Charlotteâ¯Ãâ¯Jiaxian; FoSTeS; Fork Stalling and Template Switching; GBP2; guanylate binding protein 2; GWAS; genome-wide association study; JA; Jian cattle; JJ; J
A novel duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2 (BDA2)
Keywords: BD; brachydactyly; BDA2; Brachydactyly type A2; BMP; bone morphogenetic protein; BMPR1B; bone morphogenetic protein receptor type-1B; CNV; copy number variant; GDF; growth differentiation factor; LCR; low copy repeat; NAHR; non-allelic homologous recombin
Novel noncontiguous duplications identified with a comprehensive mutation analysis in the DMD gene by DMD gene-targeted sequencing
Keywords: BMD; Becker muscular dystrophy; DMD; Duchenne muscular dystrophy; FoSTeS; Fork Stalling and Template Switching; FTHL17; ferritin heavy chain like 17; MLPA; multiplex ligation dependent probe amplification; MMBIR; microhomology-mediated break-induced repli
Intrachromosomal homologous recombination between inverted amplicons on opposing Y-chromosome arms
Keywords: MSY; male-specific region of the Y chromosome; NAHR; non-allelic homologous recombination; AZFc; azoospermia factor c; IR; inverted repeat; DSB; double-strand break; STS; sequence-tagged site; FISH; fluorescence in situ hybridization; PAR; pseudoautosomal
Ionizing radiation and genetic risks. XVII. Formation mechanisms underlying naturally occurring DNA deletions in the human genome and their potential relevance for bridging the gap between induced DNA double-strand breaks and deletions in irradiated germ
Keywords: Genetic risk; DNA damage; DNA deletion; DSB repair; NHEJ; NAHR; DSB;
A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome
Keywords: RSTS; Rubinstein-Taybi syndrome; OMIM; Online Mendelian inheritance in man; CREBBP; CREB binding protein; EP300; E1A binding protein p300; CGH; comparative genomic hybridization; PCR; polymerase chain reaction; Cy3-dUTP; deoxyuridine 5â²-triphosphate c
Development of highly-sensitive microbial biosensors by mutation of the nahR regulatory gene
Keywords: NahR; Mutagenesis; Highly-sensitive biosensors; Bioluminescence
Genomic rearrangements in inherited disease and cancer
Keywords: aCGH; array comparative genomic hybridization; BIR; break-induced replication; CNV; copy number variation; CNM; copy number mutation; D-loop; displacement loop; DSB; double-strand break; FoSTes; fork stalling and template switching; HJ; Holliday junction;
Inviting instability: Transposable elements, double-strand breaks, and the maintenance of genome integrity
Keywords: Nonallelic; DNA repair; Transposable Elements; Recombination; Mobile Elements; NAHR
NahR: effects of replacements at Asn 169 and Arg 248 on promoter binding and inducer recognition
Keywords: NahR; Mutagenesis; DNA Binding; Bioluminescence; Gel retardation assay;
Stable long-term indigo production by overexpression of dioxygenase genes using a chromosomal integrated cascade expression circuit
Keywords: Dioxygenase; nahR; Psal; xylS2; Pm; Indigo;
Ionizing radiation and genetic risks
Keywords: AS; Angelman syndrome; BEIR Committee; Biological Effects of Ionizing Radiation committee of the U.S. National Academy of Sciences; BFB; Breakage fusion bridge cycle; CMT1A; Charcot-Marie-Tooth disease type 1A; DGS/VCFS; Di George/Velocardiofacial syndrom