Results 31 to 40 of about 3,057,577 (276)
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.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
Sriwijaya Law ReviewIndonesia's legislative drafting framework requires all laws and regulations to comply with the Guide of Legislation because non-compliance may result in judicial invalidation. Although legislative drafting is expected to adhere to these formal standards,
Fitriani Ahlan Sjarif +2 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.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
Journal of Information Systems and Informatics, 2019 Information Technology (IT) governance is used to manage and optimize IT resources in supporting organizational goals. The Legal Section of the Regional Secretariat of Salatiga City as part of a government organization has built E-Legal Drafting ...
Caecilia Ika Pramita Ady +2 more
doaj +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.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
Annals of Clinical and Translational Neurology, EarlyView.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
Вестник Тамбовского университета. Серия: Гуманитарные науки, 2023 Importance. The construction of methodical models of teaching is due to a number of factors that determine the trajectories of the pedagogical science development.
M. V. Gavrilov
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.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
Statutory interpretation in multilingual jurisdictions [PDF]
With particular reference to the case of Rwanda, this paper examines factors such as Legal Status, Equal Authenticity, the Shared Meaning Rule and Application of the Shared meaning Rule, which determine complexity of statutory interpretation in ...
Birungi Kamugundu, Odethie
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Pre-legislative scrutiny as a way of ensuring the quality of legislation [PDF]
This dissertation examines the ways in which pre-legislative scrutiny at the pre-drafting stage enhances the drafter’s performance in the first and second of Thornton’s stages of drafting process, thus leading to greater effectiveness of legislation. The
Mukeshimana, Beata
core +3 more sources