Results 221 to 230 of about 58,589 (317)

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

Epilepsia, Volume 67, Issue 4, Page 1945-1960, April 2026.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, Serene El‐Kamand, Anthony Sze Hon Kan, Isabel T. Kristoffersen, Rebekka S. Dahl, Anne F. Højte, Stéphane Auvin, Arjan Bouman, Shimriet Zeidler, Gerhard Kluger, Gaetan Lesca, Nicolas Chatron, Zeynep Goke‐Samar, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Elise Schaefer, Anne de Saint Martin, Sarah Baer, Mohammed Al Owain, Saud Takroni, Hesham Al‐Dhalaan, Paolo Bonanni, Alessandra Rossi, Nicoletta Zanotta, Marina Trivisano, Nicola Specchio, Angela de Dominicis, Pasquale Striano, Alessandro Orsini, Maria Margherita Mancardi, Sebastian Neuens, Melanie Jennesson‐Lyver, Ira Benkel‐Herrenbrueck, David Genevieve, Richard Sidlow, Kamer Tezcan, Ilona Krey, Johannes R. Lemke, Konrad Platzer, Damien Lederer, Inga Talvik, Ulvi Vaher, Kees P. J. Braun, Anne‐Marie Guerrot, Rebecca More, Matthias De Wachter, Sarah Weckhuysen, Evelina Carapancea, Maria Roberta Cilio, Julia Jacobs, Katalin Sterbova, Simona Balestrini, Renzo Guerrini, Giulio Peroni, Inger‐Lise Mero, Walaa ElNaggar, Nour Elkhateeb, Ariane Schmetz, Denise L. Chan, Ghayda M. Mirzaa, Boris Chaumette, Adrien Legrand, Amy McTague, Tommy Stödberg, Rebekah V. Harris, Samuel F. Berkovic, Ingrid E. Scheffer, Mary Chebib, Elena Gardella, Philip K. Ahring, Nathan L. Absalom, Rikke S. Møller   +73 more
wiley   +1 more source

Development and Application of a Laboratory Simulation Device for the Underground Compressed Air Energy Storage System. [PDF]

ACS Omega
Fu Y, Chen S, Zheng K, Zhang Y.
europepmc   +1 more source

CAE

Seikei-Kakou, 2000
openaire   +1 more source

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain

Epilepsia Open, Volume 11, Issue 2, Page 643-651, April 2026.
Abstract The FBXW7 gene encodes a substrate‐recognition component of the Skp1‐Cul1‐F‐box (SCF) E3 ubiquitin ligase complex, which targets key regulatory proteins for proteasomal degradation. Recently, loss‐of‐function FBXW7 variants have been associated with a novel neurodevelopmental disorder characterized by heterogeneous clinical features.
Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, Francesca Madia, Maria Margherita Mancardi, Stefania Fornarino, Luca Bosisio, Zahra Hoseini Tavassol, Mir Davood Omrani, Federico Zara, Marcello Scala   +10 more
wiley   +1 more source

Study on Factors Influencing Energy Storage Efficiency in Long-Narrow Roadway of Abandoned Mines for Compressed Air Energy Storage. [PDF]

ACS Omega
Cai C, Zhu Z, Wan D, Zou Z, Zhou Y, Zhang G, Li J.   +6 more
europepmc   +1 more source

Implement of CAD/CAM/CAE Integrated Technology for Out Shell of Digital Camera

, 2011
Weihua Kuang, Lisi Chen, Zhenyi Xian, Yaohui Chen   +3 more
openalex   +1 more source

Single‐Cell and Spatial Omics: Methods and Applications

MedComm, Volume 7, Issue 4, April 2026.
Systematically summarized the breakthrough sequencing technologies and computational methods for single‐cell and spatial omics across multiple omics layers, including genome, epigenome, transcriptome, proteome, and metabolome. State‐of‐the‐art methods for multi‐omics integration, cross‐modal integration, and cross‐scale integration were reviewed, with ...
Xiaoping Cen, Xiaolan Huang, Enjin Deng, Xue Gong, Na Tan, Jifeng Ye, Yin Wang, Roland Eils, Qun Luo, Yixue Li, Fangfang Qu   +10 more
wiley   +1 more source

One Man's Meat Is Another Man's Poison: High Incidence of Severe Cutaneous Drug Reactions Induced by Enfortumab Vedotin. [PDF]

Eur Urol Open Sci
Pan Y, Yu R, Huang H, Chen X, Gou X, Chen A.   +5 more
europepmc   +1 more source

Numerical modelling and simulation of road crash tests with the use of advanced CAD/CAE systems

, 2012
T. Niezgoda, W. Barnat, P. Dziewulski, A. Kiczko   +3 more
openalex   +1 more source

Development of a web based CAE system : CASOW

, 2003
Yoshitaka Wada
openalex   +2 more sources