Nanostructured bismuth ferrite (BiFeO) single-phase nanoparticles with 76.2% crystallinity and 100% perovskite structure were synthesized using a co-precipitation method. The X-ray diffraction pattern confirmed the perovskite structure of BFO, and Rietveld refinement demonstrated the presence of a triclinic structure with the 1 space group.
View Article and Find Full Text PDFPurpose: We set out to develop a publicly available tool that could accurately diagnose spinal muscular atrophy (SMA) in exome, genome or panel sequencing datasets aligned to a GRCh37, GRCh38, or T2T reference genome.
Methods: The SMA Finder algorithm detects the most common genetic causes of SMA by evaluating reads that overlap the c.840 position of the SMN1 and SMN2 paralogs.
Objective: Traumatic brain injury (TBI) prediction models have gained significant attention in recent years because of their potential to aid in clinical decision making. Existing models, such as Corticosteroid Randomization after Significant Head Injury and International Mission for Prognosis and Analysis of Clinical Trials, are currently losing external validity and performance, probably because of their diverse inclusion criteria and changes in treatment modalities over the years. There is a lack of models that predict outcomes strictly pertaining to primary decompression after TBI.
View Article and Find Full Text PDFencodes a human long noncoding RNA (lncRNA) adjacent to , a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Here, we report our findings in three unrelated children with a syndromic, early-onset neurodevelopmental disorder, each of whom had a de novo deletion in the locus. The children had severe encephalopathy, shared facial dysmorphisms, cortical atrophy, and cerebral hypomyelination - a phenotype that is distinct from the phenotypes of patients with haploinsufficiency.
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