Results 51 to 60 of about 52,624 (289)
Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz +3 more
wiley +1 more source
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
EBSLG Annual General Conference, 18. - 21.05.2010, Cologne. Selected papers [PDF]
, 2011 Am 18.-21. Mai 2010 fand in der Universitäts- und Stadtbibliothek (USB) Köln die „Annual General Conference“ der European Business Schools Librarians Group (EBSLG) statt.
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The Anglo-American Cataloguing Rules and Their Future
Library Resources & Technical Services, 2000 The past, present, and future development of AACB2 is outlined with particular emphasis on the directions provided by the International Conference on the Principles and Future Development of AACR held in Toronto in October 1997. International cooperation as a significant element in the development and future of the code was highlighted.
openaire +2 more sources
Arthritis Care &Research, EarlyView.Objective A leading cause of death among patients with scleroderma (SSc), interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M. Padilla +13 more
wiley +1 more source
A semantic web approach for built heritage representation [PDF]
, 2015 In a built heritage process, meant as a structured system of activities aimed at the investigation, preservation, and management of architectural heritage, any task accomplished by the several actors involved in it is deeply influenced by the way the ...
A Ayón +7 more
core +1 more source
Advanced Engineering Materials, EarlyView.This article presents the NFDI‐MatWerk Ontology (MWO), a Basic Formal Ontology‐based framework for interoperable research data management in materials science and engineering (MSE). Covering consortium structures, research data management resources, services, and instruments, MWO enables semantic integration, Findable, Accessible, Interoperable, and ...
Hossein Beygi Nasrabadi +4 more
wiley +1 more source
Library systems: the trends, the developments, the future [PDF]
, 2005 This article introduces some of the latest developments and trends taking place with respect to library systems, and makes some informed judgements on what the future ...
Dunsire, G., Macgregor, G.
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Advanced Functional Materials, EarlyView.Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.
Ruth A. Foley +12 more
wiley +1 more source
Privileging information is inevitable [PDF]
, 2006 Libraries, archives and museums have long collected physical materials and other artefacts. In so doing they have established formal or informal policies defining what they will (and will not) collect.
Currall, J.E.P. +2 more
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