Genome Medicine (2022) 14:23 https://doi.org/10.1186/s13073-022-01026-w REVIEW Open Access A guide for the diagnosis of rare and undiagnosed disease: beyond the exome Shruti Marwaha1,2* , Joshua W. Knowles1,3 and Euan A. Ashley1,2,4* Abstract ...
Table 1. Themes From Free-Text Responses View LargeDownload ThemeQuotations Emphasis on efficacy of treatments “I think any diagnosis that can impact management is worth screening for.” “Probably obvious, but would select only treatable conditions–though this is likely to change as gene therapies...
3). Though these findings are an indication that the inclusion of more data alone may not lead to better performance, it is worth noting that these four largest sites used for the independent model training represent comprehensive cancer centers (compared to hospitals in community settings) with ...
It is worth noting the shift on the right of the IPGS distribution for the severe patients, with significant p value (< 0.001) for the t test of mean difference. This difference between severe and non- severe cases is preserved for the male and female cohorts when analyzed separately (p ...
(Fig. 5) However, it is worth noting that SALL4 staining was only weakly positive, and a pure hepatoid growth pattern was observed. Additionally, although a significant decrease in α-FP was noted during neo-adjuvant chemotherapy, the histopathological analysis revealed very little response to ...
However, a few recent advances are worth mentioning. The origin of pathological fibroblast foci within the IPF lesion remains puzzling. Possibilities include differentiation of resident fibroblasts, recruitment of circulating fibroblast precursors and transdifferentiation of epithelial cells into pathological ...
While to date within this context, only regions of U and Th enrichment have been detected (e.g., Figure 9a), it is worth proposing that future exploration of the lunar surface may yet reveal U-Th-REE regions associated with the distribution of chemically evolved lithologies. Minerals 2018,...
minerals Article Comparison of Three Approaches for Bioleaching of Rare Earth Elements from Bauxite Megan J. Barnett 1,*, Barbara Palumbo-Roe 1, Eimear A. Deady 2 and Simon P. Gregory 1 1 British Geological Survey, Nicker Hill, Keyworth NG12 5GG, UK; bpal@bgs.ac.uk (B.P.-R.); ...
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[84]. It is worth noting that nearly one third of all the identifiedRECQL4mutations are splicing mutations (Fig.3), often not canonical,i.e. escaping detection by standard genomic analysis. In all cases in which we were able to analyse the transcripts, valuable information on the type of...