Results 61 to 70 of about 5,160 (185)
Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
The Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal +3 more
wiley +1 more source
Tabula Rasa: Revista de Humanidades, 2010 En escrito nos ocuparemos de la noción de espacio público desde la afirmación de Michel Foucault «hacer una historia de los espacios es hacer, al mismo tiempo, una historia de los poderes» se presenta una genealogía de esta noción que da cuenta de una ...
Jorge Eliécer Martínez P.
doaj
Exploring the Impact of RNU4‐2 Defects on Neurodevelopmental Disorders in a Korean Population
Clinical Genetics, Volume 110, Issue 1, Page 90-95, July 2026.Among 15 450 Korean individuals, noncoding RNU4‐2 variants, primarily the recurrent de novo n.64_65insT, make up 0.72% of neurodevelopmental disorders. Modeling and RNA‐seq suggest U4/U6 disruption and abnormal 5′ splice‐site selection, supporting routine use of WGS analysis for reanalyzing unresolved cases. ABSTRACT Neurodevelopmental disorders (NDDs)
Juhyeon Hong +20 more
wiley +1 more source
Clinical Genetics, Volume 110, Issue 1, Page 46-63, July 2026.Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru +16 more
wiley +1 more source
Geography of the world’s ending: Capital and the production of terminal spaces
Arte y Políticas de Identidad, 2010 Apocalypse happens all the time and is no longer a time, but a place. Catastrophes are no longer singular events, but geographical structures with their own spatial and juridico-political configuration: disaster-spaces that confine what Agamben calls ...
José Manuel Bueso
doaj +2 more sources
Functional Segregation of Epileptogenicity within the Human Amygdala
Annals of Neurology, Volume 99, Issue 6, Page 1598-1612, June 2026.Objective In temporal lobe epilepsy (TLE), the amygdala in the epileptogenic network is underestimated compared to other regions such as the hippocampus. Recent advances in anatomical neuroimaging and stereoelectroencephalography (SEEG) signal analyses could help better understand the involvement of the different amygdala nuclei in the genesis of ...
Odile Feys +14 more
wiley +1 more source
Graffiti, espace du politique et hétérotopie révolutionnaire au Caire (2011-2013)
إنسانيات, 2019 This article proposes an analysis of the graffiti that have appeared on the walls of the city of Cairo during the “Revolution of 25 January” 2011.
Enrique Klaus
doaj +1 more source
Beyond Broca and Wernicke: Epilepsy surgery in the language areas
Epileptic Disorders, Volume 28, Issue 3, Page 581-601, June 2026.Abstract Epilepsy surgery in language areas is challenged by the intricacies of presurgical workup and surgical planning. In recent decades, the view of language‐related circuitry has shifted from being localized in a few cortical centers to a distributed, dynamically interconnected system, increasing complexity.
Carmen Barba +16 more
wiley +1 more source
Epilepsia, Volume 67, Issue 6, Page 2979-2991, June 2026.Abstract Objective Malformations of cortical development (MCDs) are a frequent cause of drug‐resistant epilepsy and a common indication for resective epilepsy surgery. As magnetic resonance imaging (MRI) lacks sensitivity for subtle MCDs, supplemental diagnostic tools are needed.
Lubna Shakhatreh +10 more
wiley +1 more source
Epilepsia Open, Volume 11, Issue 3, Page 1003-1016, June 2026.Abstract Objective Children and adolescents with pharmacoresistant epilepsy (PRE) show marked individual cognitive and emotional variability not fully accounted for by demographic or clinical variables. This exploratory pilot study characterizes neuroanatomical abnormalities and their relationships with neuropsychological functioning in a pediatric ...
Ana Arenivas +9 more
wiley +1 more source