Transcriptional analysis can be utilized to reconcile variants of uncertain significance, particularly those predicted to impact splicing. Laboratory analysis of the predicted mRNA transcript may allow inference of the in vivo impact of the variant and aid prediction of its clinical significance. We present a patient with classical features of…[Read more]

A method for increasing the solubilities of industrial azo pigments in DMSO by adding DBU (1,8-diaza-7-bicyclo[5.4.0]undecene) has been developed. This facilitated the acquisition of solution 13 C NMR spectra of the pigments. This method was applied to four types of azo pigments naphthol AS (3-hydroxy-2-naphthoic acid anilide) pigments, naphthol…[Read more]

The cross-linked GO-PEI mediated gene transfection together with a multi-functional microfiber arrayed hydrogel provide a translatable approach for endogenous stem cell-based regenerative therapy.This paper reports a new method for the determination of sludge water content by a multiple headspace extraction gas chromatographic (MHE-GC) method. It…[Read more]