Keywords: Prune belly syndrome; Eagle-barrett syndrome; Copy number variant; Abdominal wall musculature; BAF; B allele frequency; BPA; British Pediatric Association; CMR; Congenital Malformations Registry; CNV; copy number variant; DGV; Database of Genomic Variants
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: CNV; copy number variation; WGS; whole genome sequencing; CMA; chromosomal microarray analysis; NGS; next-generation sequencing; NKD; normal-karyotype database; DGV; database of genomic variants; OMIM; Online Mendelian Inheritance in Man; Trisomy; Miscarr
Keywords: ADHD; Attention Deficit and Hyperactivity Disorder; ACMG; American College of Medical Genetics; AR; Autosomal Recessive; ASD; Autism Spectrum Disorders; aCGH; array Comparative Genomic Hybridization; BP; BreakPoints; CK1; Casein- Kinase 1; CdLS; Cornelia
Keywords: NAT; HIV; VHC; VHB; France; DGV; VIH; HCV; HBV; France;
Keywords: corpus callosum; agenesis of corpus callosum; dysgenesis of corpus callosum; CNV; SNP array; chromosomal microarray; CNVs; Copy number variations; DGV; Database of genomic variants; NF1; Neurofibromatosis type 1; SHH; Sonic hedgehog; VOUS; Variants of unk
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
Keywords: HSCR; Hirschsprung disease; CNV; copy number variation; LOH; loss of heterozygosity; qPCR; quantitative polymerase chain reaction; S-HSCR; short-segment Hirschsprung disease; L-HSCR; long-segment Hirschsprung disease; TCA; total colonic aganglionosis; SNP
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: Acute lymphoblastic leukemia; deletions; duplications; DGV; germline sample
Comparison of SHOX and associated elements duplications distribution between patients (LÄri-Weill dyschondrosteosis/idiopathic short stature) and population sample
Keywords: ASMT; acetylserotonin O-methyltransferase; CNE; conserved non-coding elements; CNV; copy number variant; DECIPHER; Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources; DGV; Database of Genomic Variants; ISS; idiopathic short
Improved Multiplex Ligation-dependent Probe Amplification (i-MLPA) for rapid copy number variant (CNV) detection
Keywords: MLPA; CNV detection; DGV;
A 1.5Â Mb terminal deletion of 12p associated with autism spectrum disorder
Keywords: aCGH; array CGH; ADD; Attention Deficit Disorder; ADHD; Attention Deficit Hyperactivity Disorder; ASD; Autism Spectrum Disorder; B4GALNT3; beta-1,4-N-acetyl-galactosaminyl transferase 3; BAC; bacterial artificial chromosome; CARS; Childhood Autism Rating
Identification of a patient with intellectual disability and de novo 3.7Â Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15
Keywords: Mb; megabase; SNP; single nucleotide polymorphism; ID; intellectual disability; HC; head circumference; SD; standard deviation; MRI; magnetic resonance imaging; FMR1; fragile X mental retardation 1; PCR; polymerase chain reaction; FISH; fluorescence in si
Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion
Keywords: CEBIOR; Center for Biomedical Research; CNAG; Copy Number Analyzer for Affymetrix Genechip mapping; DECIPHER; Database of chromosomal imbalance and phenotype in humans using Ensembl Resources; DGHE; Directorate of Higher Education; DGV; Database of Genomi
Dix ans de diagnostic génomique viral : leçons et perspectives
Keywords: Transfusion; DGV; Qualification biologique des dons; VIH; VHCTransfusion; NAT; Blood screening; HIV; VHC
Evaluation of infrastructure, equipment and training of 28 burn units/burn centers in Germany, Austria and Switzerland
Keywords: Burn unit; Burn center; Infrastructure; Guidelines; Burns; Treatment; Requirements; German-speaking countries; ABA; DGV
Derivation and comparison of fundamental uncertainty limits for laser-two-focus velocimetry, laser Doppler anemometry and Doppler global velocimetry
Keywords: Cramér-Rao lower bound; Measurement uncertainty; Velocity measurement; Flow analysis; L2F; LDA; DGV; Turbomachinery;