Results 131 to 140 of about 2,446,572 (290)

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, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Bringing computational science to the public. [PDF]

Springerplus, 2016
McDonagh JL, Barker D, Alderson RG.
europepmc   +1 more source

Trajectories of Physical Function in Canadian Children with Juvenile Idiopathic Arthritis

Arthritis Care &Research, Accepted Article.
Objectives We describe trajectories of physical function in children newly diagnosed with juvenile idiopathic arthritis (JIA) and identify trajectories with persisting functional impairments and associated baseline characteristics. Methods We included patients enrolled in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry ...
Clare Cunningham, Meghan McPherson, Lillian Lim, Roberta A. Berard, Matthew Berkowitz, Jean‐Philippe Proulx‐Gauthier, Brian M. Feldman, Nicole Johnson, Dax G. Rumsey, Heinrike Schmeling, Lori B. Tucker, Thomas Loughin, Kristin M. Houghton, Jaime Guzman, The CAPRI Registry Investigators   +14 more
wiley   +1 more source

Problems with the Current Approach to the Dissemination of Computational Science Research and Its Implications for Research Integrity. [PDF]

Bull Math Biol, 2018
Gavaghan D.
europepmc   +1 more source

Experimental Evaluation of 100Cr6 Steel Microindented Surfaces Under Lubricated Nonconformal Point Contacts

Advanced Engineering Materials, EarlyView.
The tribological behavior of 100Cr6 steel spheres textured via Vickers microindentation is evaluated under lubricated sliding by varying both dimple size and density. Fine and dense textures significantly reduce friction across all lubrication regimes, while large dimples increase it.
Farideh Davoodi, Pasquale Guglielmi, Gianfranco Palumbo, Giuseppe Carbone   +3 more
wiley   +1 more source

The 3rd anniversary of Frontiers in Virology: aiming to consolidate the virus research

Frontiers in Virology
Akio Adachi, Takaaki Koma, Masako Nomaguchi   +2 more
doaj   +1 more source

Short-term prediction of suicidal thoughts and behaviors in adolescents: Can recent developments in technology and computational science provide a breakthrough? [PDF]

J Affect Disord, 2019
Allen NB, Nelson BW, Brent D, Auerbach RP.   +3 more
europepmc   +1 more source

What Do Large Language Models Know About Materials?

Advanced Engineering Materials, EarlyView.
If large language models (LLMs) are to be used inside the material discovery and engineering process, they must be benchmarked for the accurateness of intrinsic material knowledge. The current work introduces 1) a reasoning process through the processing–structure–property–performance chain and 2) a tool for benchmarking knowledge of LLMs concerning ...
Adrian Ehrenhofer, Thomas Wallmersperger, Gianaurelio Cuniberti   +2 more
wiley   +1 more source

Computational Communication Science| Toward Open Computational Communication Science: A Practical Road Map for Reusable Data and Code

International Journal of Communication, 2019
Computational communication science (CCS) offers an opportunity to accelerate the scope and pace of discovery in communication research. This article argues that CCS will profit from adopting open science practices by fostering the reusability of data ...
Wouter van Atteveldt, Joanna Strycharz, Damian Trilling, Kasper Welbers   +3 more
doaj  

Computer Science of Science

Abstract We are constrained by our limited cognitive and computing capacity when studying the world. We are flooded with vast amounts of new data and publications each year, at a pace far exceeding our human abilities to process the expanding influx of information and data. Computers play a central role in science and studying science by
openaire   +1 more source