Results 21 to 30 of about 19,714 (166)

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients

Clinical Genetics, EarlyView.
Novel variants in PUS7 associated with intellectual disability and growth retardation: expanding the clinical spectrum in 13 patients. ABSTRACT Pseudouridylation is a frequent post‐transcriptional modification resulting in uridine isomerization in 5‐ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base‐
Camille Bergès, Clément Sauvestre, Sophie Naudion, Catherine Vincent Delorme, Thomas Smol, Mélanie Rama, Stephanie Moortgat, Isabelle Maystadt, Rogier Kersseboom, Martina Wilke, Stefan Barakat, Yoann Vial, Laurence Perrin, Sandrine Passemard, Farooq Ahmad, Muhammad Umair, Tobias Haack, Mona Grimmel, Alma Kuechler, Anne Slavotinek, Patrick Devine, Ugur Hodoglugil, Faisal Zafar, Erum Afzal, Tracy Dudding‐Byth, Guillaume Jouret, Lucas Herissant, Stephanie Efthymiou, Henry Houlden, Marine Legendre, Vincent Michaud   +30 more
wiley   +1 more source

Evaluating the use of taxonomy in the IUCN Red List

Conservation Biology, EarlyView.
Abstract Taxonomy defines the units that conservationists strive to preserve for future generations. However, the discovery of new species and the taxonomic revision of existing species affect conservation efforts. Despite the importance of taxonomy for a species’ conservation, there is currently no overview of how those leading species extinction risk
Stephen T. Garnett, Claire E. Johnston, Phil Bowles, Les Christidis, Stijn Conix, J. W. Duckworth, Aaron Lien, Frank E. Zachos, Joeri Witteveen   +8 more
wiley   +1 more source

Editorial

, 2018
La puesta en circulación de cada número de Historia Caribe constituye un logro importante en la divulgación del saber histórico, al mismo tiempo que una satisfacción por el deber cumplido al ver la culminación del arduo trabajo editor en el que ...
Editorial, Comité, Comité Editorial
core   +4 more sources

Descrição atualizada da paralisia cerebral

Developmental Medicine &Child Neurology, EarlyView.
Resumo A paralisia cerebral (PC) é um termo descritivo amplamente utilizado para um espectro de deficiências motoras causadas por lesão ou malformação cerebral não progressiva ocorrida durante as fases iniciais do desenvolvimento. Avanços recentes nas áreas da genética, de pesquisa em inflamação e em neurofisiologia têm refinado a compreensão ...
Bernard Dan, Peter Rosenbaum, Lucinda Carr, Martin Gough, John Coughlan, Nonyelum Nweke   +5 more
wiley   +1 more source

Índice y Comité Editorial/Académico

, 2023
Índice y Comité Editorial/AcadémicoÍndice y Comité Editorial/AcadémicoÍndice y Comité Editorial ...
editorial, Equipo
core  

The include network: Advancing cross‐linguistic equity in brain health research

Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract Speech and language measures are increasingly recognized as sensitive, scalable, non‐invasive markers of diverse brain disorders. Yet, current research is overwhelmingly English‐centric, neglecting the world's vast linguistic diversity and undermining these markers’ global applicability.
Adolfo M. García, Jessica de Leon, Suvarna Alladi, Petronilla Battista, Agustina Birba, Stefano F. Cappa, Bárbara Costa Beber, Jessica Jiang, David Kemmerer, Maxime Montembeault, Juan Rafael Orozco‐Arroyave, Maria Luisa Gorno‐Tempini, Boon Lead Tee, the Include Network   +13 more
wiley   +1 more source

The Global Epilepsy Needs Study (GENS): A mixed‐methods, multi‐country exploration of the unmet psychosocial and everyday needs of people with epilepsy

Epilepsia Open, Volume 11, Issue 3, Page 814-832, June 2026.
Abstract Objective While epilepsy research has largely focused on medical management and clinical outcomes, less attention has been given to the unmet psychosocial and everyday needs of people with epilepsy (PWE), particularly in low‐ and middle‐income countries.
Gus A. Baker, Sandeep Kumar Bagga, Donna Walsh, Claire Nolan, Shivani Sharma, Charlotte Hooker, Pepa Gonzalez Parrao, Francesca Sofia, J. Helen Cross, Ma. Marta Bertone, Ivana García, Adam Jallow Janneh, Alison Kukla, Elvira Vacas Montero, Ding Ding, Latica Friedrich, Lecio Figueira Pinto, Gagandeep Singh, Chahnez Charfi Triki, Leya Raj, Allan Reese, on behalf of GENS Collaborators, Naziya Anzari, Alicia Bogacz, Martin Brodie, Heather Brooks, Nicole Coulthard, Laura Dickson, Laura Maria de Figueiredo Ferreira Guilhoto, Anchor Hung, John Nute Jabang, Boram Lee, Kheng‐Seang Lim, Rebecca Lisle, Anita Mago, Sharon Mbugua, Bindu Menon, Sarah Nekesa, Youssouf Noormamode, Per Olesen, Kris Pierce, Dzenana Rustempasic, Jitendra K. Sahu, Ana Sruk, Christa Studzinski, Nirmal Surya, Maria Alice Susemihl, Laura Weidner, Samuel Wiebe, Andrea Wilkinson, Leonie Wollscheid, Ian Wong, Bernadette Zappa   +52 more
wiley   +1 more source

Comité Editorial - Cuadernos de Marte Nro. 18

, 2020
Comité editorial Nro ...
Editorial, Comité
core  

Comité editor y equipo [PDF]

, 2005
Fil: Editorial, Comité. Universidad de Buenos Aires. Facultad de FIlosofia y Letras.
Editorial, Comité
core   +1 more source

Electro‐Mechanical Dissociation in Chagas Cardiomyopathy: Comparative Analysis of Arrhythmic Burden Beyond LVEF

Journal of Arrhythmia, Volume 42, Issue 3, June 2026.
Despite matched clinical characteristics and LVEF, patients with Chagas cardiomyopathy exhibit a significantly higher arrhythmic burden compared to ischemic cardiomyopathy. This electro‐mechanical dissociation highlights the necessity of sudden death risk stratification strategies that extend beyond traditional ejection fraction thresholds.
Luis E. Echeverría, Lyda Z. Rojas, Angie Yarlady Serrano‐García, Yina T. Ariza, Carlos Luengas, Rachel Marcus, Carlos A. Morillo, Sergio A. Gómez‐Ochoa   +7 more
wiley   +1 more source