Results 281 to 290 of about 110,761 (334)

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology, EarlyView.
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual, Mathieu Anheim, Giulia Barcia, Tanya Bardakjian, Franciska Baur, Steffen Berweck, Bigna K. Bölsterli, Melanie Brugger, Thomas Cassini, Nicolas Chatron, Brian Corner, Hormos Salimi Dafsari, Jean‐Madeleine de Sainte Agathe, Colin A. Ellis, Kimberly M. Ezell, Cendrine Foucard, Steven J. Frucht, Maria C. Garcia, Deepak Gill, Anne Guimier, Rizwan Hamid, Damià Heine‐Suñer, Peter Herkenrath, Marie Hully, Ioannis U. Isaias, Louis Januel, Chloe Laurencin, Taylor Laut, Alinoe Lavillaureix, Gaetan Lesca, Marion Lesieur‐Sebellin, Luca Magistrelli, Cecilia Marelli, Heather C. Mefford, Bryce A. Mendelsohn, Saadet Mercimek‐Andrews, Claire Miller, Shekeeb S. Mohammad, Francesca Morgante, Sirisha Nandipati, Thomas Opladen, Mahesh Padmanaban, Micaela Pauni, Gianni Pezzoli, Amelie Piton, Francis Ramond, Giulietta M. Riboldi, Christelle Rougeot‐Jung, Fernando Santos‐Simarro, Ingrid E. Scheffer, Naoual Serari, Christine M. Stahl, Ann Stembridge Kung, Susana Tarongí Sanchez, Christel Thauvin‐Robinet, Marianne Till, Christine Tranchant, Christopher Troedson, Thomas F. Tropea, Olivier Vanakker, Patricia Vega, Maxi Leona Wiese, Udo Wieshmann, Laura J. Williams, Thomas Wirth, Michael Zech, Hans Zempel, Emmanuel Roze, Vincenzo Leuzzi, Serena Galosi, Victor S. C. Fung, Gemma Carvill, Dimitri Krainc, Elizabeth Gerard, Niccolò E. Mencacci   +79 more
wiley   +1 more source

Cascade Electrocatalytic Reduction of Nitrate to Ammonia Using Bimetallic Covalent Organic Frameworks with Tandem Active Sites

Angewandte Chemie, EarlyView.
Fabricating covalent organic frameworks electrocatalyst with bimetallic active sites and promoting cascade electrocatalytic reduction of nitrate to ammonia through the copper‐cobalt tandem mechanism. The Cu sites serve as the activation centers for adsorption and the initial 2e− process. The ‐N‐Co‐O‐ interface promotes water adsorption and dissociation,
Jian Zhong, Haiyan Duan, Mingquan Cai, Ying Zhu, Zhenlin Wang, Xingchi Li, Zhengliang Zhang, Wenqiang Qu, Kai Zhang, Donglin Han, Danhong Cheng, Yongjie Shen, Ming Xie, Emiliano Cortes, Dengsong Zhang   +14 more
wiley   +2 more sources

Expressing degrees of uncertainty in medical discourse: Hedging revisited. [PDF]

J Adv Med Educ Prof
Shomoossi F, Shokrpour N.
europepmc   +1 more source

Illocutionary structure and politeness: Building knowledge and opinion in letters from readers of scientific topics [PDF]

, 2010
Guiomar Elena Ciapuscio
openalex  

Enhanced Exosome Production in Mesenchymal Stem Cells via Extracellular Matrix‐Incorporated 3D Spheroid Printing

Advanced NanoBiomed Research, EarlyView.
A novel extracellular matrix (ECM)‐integrated mesenchymal stem cell spheroid bioprinting technology has been introduced to significantly enhance exosome production for therapeutic applications. By optimizing spheroid size and ECM composition, the study demonstrates an 18.4‐fold increase in exosome yield compared to 2D culture systems.
Jun‐Ho Heo, Min Kyeong Kim, Sang Jin Lee, Hyun‐Wook Kang   +3 more
wiley   +1 more source

Assessment of patients' perception and satisfaction with extemporaneous compounding service in ALERT hospital, Ethiopia. [PDF]

BMC Health Serv Res
Hirpina B, Selam MN, Fentie AM, Wale M, Tegegne AM, Abera S.   +5 more
europepmc   +1 more source

Quantifying Imperfect Cognition Via Achieved Information Gain

Annalen der Physik, EarlyView.
Cognition, the processing of information in the form of inference, communication, and memorization, is the central activity of any intelligence. To quantify imperfect cognition, the concept of achieved information gain (AIG) is introduced. AIG can be derived axiomatically, allows cognitive fidelity and efficiency to be defined mathematically, and ...
Torsten Enßlin
wiley   +1 more source

An ERP study on verb bias and thematic role assignment in standard Indonesian. [PDF]

Sci Rep
Jap BAJ, Hsu YY.
europepmc   +1 more source

Psychological needs related to civil inattention: A qualitative and quantitative view on public encounters. [PDF]

Br J Soc Psychol
Diefenbach S, Riehle A, Jannott H, Vornhagen JS, Stoll J, Markhoff L, von Terzi P.   +6 more
europepmc   +1 more source