Results 61 to 70 of about 60,577 (257)

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Fine-tuning XLNet for Amazon review sentiment analysis: A comparative evaluation of transformer models

ETRI Journal
Transfer learning in large language models adapts pretrained models to newtasks by leveraging their existing linguistic knowledge for domain-specificapplications. A fine-tuned XLNet, base-cased model is proposed for classifyingAmazon product reviews. Two
Amrithkala M. Shetty, Manjaiah D. H., Mohammed Fadhel Aljunid   +2 more
doaj   +1 more source

From Marginal to Central: Marginal Zone‐like B Cells as Critical Targets in Cladribine‐Treated Multiple Sclerosis

Annals of Neurology, EarlyView.
Objective Multiple sclerosis (MS) is a chronic autoimmune disease where B cells play a central pathogenic role. Cladribine, an oral therapy, provides durable benefits by reshaping lymphocyte populations, yet its specific long‐term impact on distinct B‐cell subsets is not fully understood.
Marta Pirronello, Mario Picozza, Gisella Guerrera, Silvia Corbisiero, Andrea Misiti, Roberta C. Placido, Alice Verdiani, Lorenzo de Marco, Manolo Sambucci, Elena Olivieri, Daniela F. Angelini, Esmeralda Quartuccio, Luca Prosperini, Carla Tortorella, Maria C. Buscarinu, Valeria Zancan, Francesca de Masi, Marco Salvetti, Claudio Gasperini, Giovanna Borsellino, Luca Battistini   +20 more
wiley   +1 more source

Diagnostic and prognostic performance of urinary neutrophil gelatinase‐associated lipocalin in patients with cirrhosis and acute kidney injury

Hepatology, EarlyView., 2022
Diagnostic and prognostic ability of urinary NGAL in patients with cirrhosis and AKI. Abstract Background and Aims Acute kidney injury (AKI) commonly occurs in patients with decompensated cirrhosis. Urinary neutrophil gelatinase–associated lipocalin (uNGAL) could help discriminate between different etiologies of AKI.
Carmine Gambino, Salvatore Piano, Matteo Stenico, Marta Tonon, Alessandra Brocca, Valeria Calvino, Simone Incicco, Nicola Zeni, Roberta Gagliardi, Chiara Cosma, Martina Zaninotto, Patrizia Burra, Umberto Cillo, Daniela Basso, Paolo Angeli   +14 more
wiley   +1 more source

Evaluation and prediction of SVM parameters in engineering cost based on random forest hybrid optimization

Nonlinear Engineering
In the construction industry, the effectiveness of project cost management directly affects the success and sustainability of the project. Traditional cost forecasting methods often rely on experience and historical data, which is difficult to adapt to ...
Zhao Li, Li Haibo, Zhong Lihua, Liu Xiaoyi   +3 more
doaj   +1 more source

Advancing Seabed Bedform Mapping in the Kuźnica Deep: Leveraging Multibeam Echosounders and Machine Learning for Enhanced Underwater Landscape Analysis

Remote Sensing
The ocean, covering 71% of Earth’s surface, remains largely unexplored due to the challenges of the marine environment. This study focuses on the Kuźnica Deep in the Baltic Sea, aiming to develop an automatic seabed mapping methodology using multibeam ...
Łukasz Janowski
doaj   +1 more source

Noninvasive tests for nonalcoholic fatty liver disease in a multi‐ethnic population: The HELIUS study

Hepatology Communications, EarlyView., 2022
Abstract Nonalcoholic fatty liver disease (NAFLD) is increasing in prevalence and severity globally, prompting noninvasive testing, yet limited data exist on noninvasive liver tests (NITs) including transient elastography (TE) in ethnically diverse populations.
Anne‐Marieke van Dijk, Yasaman Vali, Anne Linde Mak, Henrike Galenkamp, Max Nieuwdorp, Bert‐Jan van den Born, Adriaan Georgius Holleboom   +6 more
wiley   +1 more source

Profile of Roberta L. Rudnick [PDF]

Proceedings of the National Academy of Sciences, 2012
Plenty of mysteries lurk beneath the Earth’s surface. Roberta Rudnick, a Distinguished University Professor and chair of the department of geology at the University of Maryland (College Park, MD) and recently elected member of the National Academy of Sciences, has plumbed these depths. In her Inaugural Article, Rudnick presents a mass balance model for
openaire   +2 more sources

The Infrared-bright SW Knots in the Complex Ejecta of VY CMa

The Astronomical Journal
The red hypergiant VY CMa is remarkable for its very visible record of high-mass-loss events observed over the range of wavelengths from the optical and infrared to the submillimeter region with Atacama Large Millimeter/submillimeter Array (ALMA). The SW
Roberta M. Humphreys, Terry J. Jones, Kris Davidson, A. M. S. Richards, R. Ravi, A. P. Singh, L. M. Ziurys   +6 more
doaj   +1 more source

Theoretical Framework (Module) for Short-Sea Shipping System Evaluation

Applied Sciences
Short-sea shipping, abbreviated SSS, is the transportation of goods by sea over relatively short distances, in contrast to intercontinental ocean and deep-sea shipping. Short-sea shipping (SSS) is important for cargo transportation in some regions of the
Vytautas Paulauskas, Birutė Plačienė, Donatas Paulauskas, Rafał Koba, Patryk Lipka, Krzysztof Czaplewski, Adam Weintrit, Andrzej Chybicki   +7 more
doaj   +1 more source