Results 101 to 110 of about 1,410,399 (279)
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
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
EVOLUTIONARY ORIGINS OF MORALITY: CROSS-DISCIPLINARY PERSPECTIVES
, 2000 Toward Good and Evil: Evolutionary Approaches to Aspects of Human Morality / Katz, Leonard D. -- `Any Animal Whatever': Darwin Building Blocks of Morality in Monkeys and Apes / Flack, Jessica C.; de Waal, Frans B.M.
Katz, Leonard D., ed.
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A critical analysis of the plays of Sarah Daniels. [PDF]
, 1996 As one of the forerunners of 'second wave' feminist playwriting, Sarah Daniels has for the past fifteen years been one of Britain's most prolific writers for the stage. This thesis is the first to offer a detailed critical analysis of all her published
Bakker, Pamela
core +2 more sources
Ontological Dimension of Community Education Refers to Augustine’s Thought in The City of God
Verbum VitaeTo educate each person integrally as a member of society, ethical principles with an ontological dimension are needed. This qualitative research with literature study method aims to explore the ontological dimension of community education refers to ...
Carolus Borromeus Mulyatno, Agus Widodo
doaj +1 more source
Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle +4 more
wiley +1 more source
Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon +5 more
wiley +1 more source
A Morality Kft. vagyoni helyzetének elemzése
, 2019 Jelen záródolgozatomban a Morality Kft. vagyoni helyzetét elemzem a 2013 és 2017 közötti időszakban. A Morality Kft. egy 2008-ban alakult debreceni könyvelőiroda, melynek a könyvelésen kívül a másik fő profilja az adótanácsadás.
Hegedűs, Tímea
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Screening Routine Clinical Notes for Epilepsy Surgery Candidates Using Large Language Models
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Epilepsy surgery is severely underutilized despite proven efficacy, with substantial under‐referral of eligible patients in routine clinical practice. This study evaluated the potential role of large language models (LLMs) as decision‐support tools for screening unstructured clinical notes to identify epilepsy surgery candidates and ...
Uriel Fennig +9 more
wiley +1 more source