Results 111 to 120 of about 1,419,860 (293)
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero+15 more
wiley +1 more source
A PANoptosis‐Based Signature for Survival and Immune Predication in Glioblastoma Multiforme
ABSTRACT Objective PANoptosis is a concept of total cell death characterized by pyroptosis, apoptosis, and necroptosis. We aimed to explore the clinical significance of PANoptosis‐related genes (PARGs) in glioblastoma multiforme (GBM). Methods Expression profiles of GBM were downloaded from the XENA database as a training dataset to construct a ...
Jun Yang+4 more
wiley +1 more source
Long-Lifetime Phosphorescence and the Diffusion Process [PDF]
P. Debye, John O. Edwards
openalex +1 more source
On identification of the threshold diffusion processes [PDF]
We consider the problems of parameter estimation for several models of threshold ergodic diffusion processes in the asymptotics of large samples. These models are the direct continuous time analogues of the well-known in time series analysis threshold autoregressive (TAR) models.
openaire +3 more sources
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas+24 more
wiley +1 more source
On the behavior of diffusion processes with traps
We consider processes that coincide with a given diffusion process outside a finite collection of domains. In each of the domains, there is, additionally, a large drift directed towards the interior of the domain. We describe the limiting behavior of the processes as the magnitude of the drift tends to infinity, and thus the domains become trapping ...
Freidlin, M., Koralov, L., Wentzell, A.
openaire +4 more sources
A framework for the adoption and diffusion of Personal Learning Environments in commercial organisations: an exploratory study in the learning and development sector in the UK [PDF]
This study presents an exploratory approach to identify the main factors of Personal Learning Environment (PLE) adoption and diffusion within commercial organisations.
Chatterjee, Arunangsu+4 more
core
ABSTRACT Background Myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) can radiographically mimic multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD). The disease hallmarks cortical lesion, central vein sign (CVS) and paramagnetic rim lesions identified in MS have not yet been comprehensively investigated in ...
Lei Su+19 more
wiley +1 more source
An Analysis for IDH‐Mutant Grade 4 Astrocytoma Based on WHO CNS 5: Implication of Clinical Practice
ABSTRACT Purpose There is ongoing debate regarding the therapeutic approach and prognosis for IDH‐mutant grade 4 astrocytoma, a newly defined subtype of diffuse glioma in the 2021 WHO classification system for central nervous system tumors (WHO CNS 5). The aim of this study was to explore the clinical outcome and prognosticators for newly diagnosed IDH‐
Xianxin Qiu+13 more
wiley +1 more source