Results 41 to 50 of about 6,461,136 (249)
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
DUALITY OF THE LEGAL NORMS SANCTIONS: CONCEPTUAL BASES
The theme's topicality is conditioned by the fact that the legal norm sanction expresses some essential features of law, which gives way to new directions of sanctions study.
A. V. Krasnov
doaj
ABSTRACT Background Collaterals are crucial factors that influence the infarct growth rate (IGR). We aimed to determine whether a comprehensive multimodal collateral score (MCS), incorporating collateral assessment at the arterial, tissue, and venous levels, is associated with functional independence and provides incremental prognostic value over ...
Giorgio Busto +12 more
wiley +1 more source
Specifics of Legal Effect Mechanism
The importance of studying law as one of the most efficient means of social control and regulation has been raised in the paper. Solving this problem requires understanding the mechanism by which law influences society and people. The aim of the study is
E.K. Shcherbakova
doaj
Revisiting the Contribution of Literal Meaning to Legal Meaning [PDF]
Many theorists take the view that literal meaning can be one of a number of factors to be weighed in reaching a legal interpretation. Still others regard literal meaning as having the potential to legally justify a particular outcome. Building on the scholarly response to HLA Hart’s famous ‘vehicles in the park’ hypothetical, this article presents ...
openaire +2 more sources
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou +16 more
wiley +1 more source
Legal procedures as a means of guaranteeing freedom
Problem setting. Problem setting there is in analyzing law procedures that ensure our freedom. The article investigates the concept of due process, the order of its establishment.
О. В. Члевик
doaj +1 more source
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit +11 more
wiley +1 more source
ADMINISTRATIVE-LEGAL AND ECONOMIC INCENTIVES FOR THE DEVELOPMENT OF INFORMATION TECHNOLOGIES
This scholarly publication examines the administrative, legal and economic incentives for developing information technology. It is evident that digitalisation has permeated almost all facets of public life, with information technologies being employed ...
Serebro Mykhailo +2 more
doaj +1 more source

