Results 141 to 150 of about 1,005,615 (312)
Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann +17 more
wiley +1 more source
JSP: Jurnal Ilmu Sosial dan Ilmu PolitikThis research aims to explain how the adoption of Sundanese ethical values is reflected in Dedi Mulyadi's leadership practices, from serving as the Regent of Karawang to carrying out his role as the Governor of West Java. The focus of the research is not
Mahatva Yoga Adi Pradana
doaj +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Globalization has brought significant changes in various aspects of life, including culture. Technological developments and the rapid flow of information create intense cultural interactions, but also threaten the preservation of local culture.
Masyuri, Muhammad, Karomah, Lailatul
core +1 more source
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
Hedonic Pricing Evaluation on Agritourism Activity in Italy: Local Culture-based or Facility-based?
This paper focused on how and what diversified activities influence the price level of agritourism. A hypothesis that contrasts two directions was examined: facility-based and local culture-based activities.
Ciani, Adriano, Ohe, Yasuo
core +1 more source
New Zealand culture of intoxication: Local and global influences
, 2010 This article shows that attitudes towards and behaviours involving the consumption of alcohol in New Zealand have long been problematic. It provides an historical account of social, economic and legislative factors which have influenced the development ...
Brett Mcewan +5 more
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Arthritis Care &Research, EarlyView.People with systemic autoimmune and rheumatic diseases (SARDs) are at higher risk than the general population of experiencing adverse pregnancy and perinatal outcomes such as preeclampsia, intrauterine growth restriction, and maternal and/or fetal death.
Mehret Birru Talabi, Sonya Borrero
wiley +1 more source
Do creative industries cluster? Mapping Creative Local Production Systems in Italy [PDF]
An important debate on the role of creativity and culture as factors of local economic development is distinctly emerging. Despite the emphasis put on the theoretical definition of these concepts, it is necessary to strengthen comparative research for ...
Rafael Boix +2 more
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Culture Shock Faced By UMSU Students’ During the Exchange Program [PDF]
, 2019 This study was designed to analyze the culture shock experienced by UMSU students’ during the exchange program. The aims of this study was to identify what culture shock experienced by the students during the exchange program and what were their ...
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