www.nature.com/ejhg ARTICLE Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRI Johanna Jacobs 1,2 ✉, Lucas Van Aelst1,2, Jeroen Breckpot 3, Anniek Corveleyn3, Cuno K
The distribution of LD is not homogenous across the MHC region, but is consistently maintained in the regions between HLA-C and HLA-B, as well as HLA-DRB1 and HLA-DQA1, with relatively low LD found in the intervening regions. This results in the delineation of the MHC region into blocks...
The distribution of LD is not homogenous across the MHC region, but is consistently maintained in the regions between HLA-C and HLA-B, as well as HLA-DRB1 and HLA-DQA1, with relatively low LD found in the intervening regions. This results in the delineation of the MHC region into blocks...
To understand the phenotypic and molecular differences between SMARD1 and CMT2S, and the role of IGHMBP2 in disease development, we generated mouse models based on six IGHMBP2 patient mutations. Previously, we reported the development and characterization of Ighmbp2D564N/D564N mice and in this...
The current study focuses on performance maintenance, rather than overall mean differences, for children with Williams syndrome, Down's syndrome and neurotypical children. The primary measure of sustained attention considered is the change in performance between the two halves of a standard CPT which ...
between biochemical markers of lipid profile and inflammatory reaction and stiffness of the vascular wall in hypertensive patients with abdominal obesity417Multiple common co-morbidities produce left ventricular diastolic dysfunction associated with coronary microvascular dysfunction, oxidative stress and myocardial...
Three genotyping models were proposed, all using the ΔCq – the difference in Cq between the REF and ALT allele reaction – from validated accessions to assign classify the SNP status. The first model (1) exploits setting manual thresholds around the heterozygous samples in the difference plots...
To investigate whether the similarity between PLK1 inhibited cells and normal epithelial tissue results from a common cell cycle arrest, we subtracted cell cycle genes from the RigoSig gene set and repeated the GSEA. Epithelial cell differentiation was significantly enriched in the modified RigoSig ...
similar trends could be observed with average genotype overlap reaching 97.60%. When taking the first model as a reference, the clustering-based model seems to outperform the automatic threshold-based model slightly (98.97% versus 98.46%, respectively). Overlap between the second and third model is...
Highest predictivity achieved on perfusion images possibly reflects the known link between IDH and neoangiogenesis through the hypoxia inducible factor. Keywords: GBM; high grade glioma; MRI; IDH; deep learning; CBV; artificial intelligence1. Introduction Glioblastoma multiforme (GBM) is the most ...