Results 91 to 100 of about 257,824 (298)
Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Plants, which lack a sophisticated endocrine system, utilize growth regulators (phytohormones) naturally produced within their bodies to grow, develop, and respond to environmental factors.
Büşra Yirmibeş +3 more
doaj +1 more source
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin +5 more
wiley +1 more source
The research strategy for pharmacodynamics, serum pharmacochemistry, metabolomics, and network pharmacology analysis method in intervention effects of LTT are illustrated. Abstract Background Liujing Toutong tablet (LTT) is a traditional Chinese patent medicine.
Zihan Yu +10 more
wiley +1 more source
Le projet LABENVI (laboratoire d’enseignement virtuel) de l’Université de Limoges offre aux apprenants éloignés la possibilité d’effectuer des travaux pratiques à distance dans le domaine de l’électronique et de l’optique.
Philippe Leproux +3 more
doaj +1 more source
The study employed a four‐tiered strategy: (1) UHPLC‐FTMS profiling of Citrus aurantium honey to characterize its chemical composition; (2) network pharmacology analysis integrating target prediction, protein–protein interaction networks, and KEGG pathway enrichment to identify the Thor1/Nprl2‐TORC1 axis as a key mechanistic pathway; (3) in vitro ...
Wenqi Wan +6 more
wiley +1 more source
GRAFİT TOZUNUN KAUÇUK KARIŞIMLARIN ÜZERİNE ETKİLERİNİN İNCELENMESİ
Kauçuk ürünler vulkanizasyonun keşfedilmesiyle beraber günümüzde farklı alanlarda sıkça kullanılmaya başlanmıştır. Bu ürünler beyaz eşya, otomotiv, uçak ve roket sanayi, inşaat ve demir yolu gibi sektörlerde değerli yere sahiptirler.
Selda Öztürk +2 more
doaj +1 more source
Zur Rolle von Wasser bei der CO2‐Reduktion an defektreichem TiO2 bei niedrigen Temperaturen
Unsere Ergebnisse unterstreichen das Potenzial von reduziertem Titandioxid als edelmetallfreiem Katalysator zur Aktivierung von CO2 und zeigen in situ die Reaktion von CO2 auf defektreichem TiO2 unter Verwendung von synchrotronbasiertem NAP‐XPS von Raumtemperatur bis 700 K.
Justin Klimek +6 more
wiley +1 more source
01. Benvinguda i Xerrada Interactiva: UX, del passat al futur
Primera part de la Jornada Serveis TIC de la UPC cel·lebrat a l'Edifici Vèrtex del Campus Nord.A aquesta xerrada interactiva Humberto Matas y Ariel Guersenzvaig introduiran el concepte d'UX i intentaran demostrar la seva importància.
Jornada dels serveis TIC de la UPC (7a : 2013: Barcelona, Catalunya)
core +1 more source

