Results 11 to 20 of about 65,910 (267)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023 Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei +4 more
wiley +1 more source
Hepatology, EarlyView., 2022 Abstract Background and Aims Reliable noninvasive biomarkers are an unmet clinical need for the diagnosis of NASH. This study investigates the diagnostic accuracy of the circulating triggering receptor expressed on myeloid cells 2 (plasma TREM2) as a biomarker for NASH in patients with NAFLD and elevated liver stiffness.
Vineesh Indira Chandran +17 more
wiley +1 more source
La figure féminine chez Arne Dybfest
Nordlit: Tidsskrift i litteratur og kultur, 2012 Arne Dybfest (1862-1892) is a Norwegian author whose female figures seem to have all the usual characteristics of the decadent woman. They are erotic, calculating and dangerous creatures entangling men in their snares and ruining their lives.
Guri Ellen Barstad
doaj +1 more source
Salutes and Saluting, Naval and Military [PDF]
Royal United Services Institution. Journal, 1918 (1918). Salutes and Saluting, Naval and Military. Royal United Services Institution. Journal: Vol. 63, No. 449, pp. 42-49.
openaire +2 more sources
Nogué, Joan; Puigbert, Laura i Bretcha, Gemma (eds.) (2008): Paisatge i salut
Documents d'Anàlisi Geogràfica, 2012 Nogué, Joan; Puigbert, Laura i Bretcha, Gemma (eds.) (2008) Paisatge i salut Olot: Observatori del Paisatge. Barcelona: Generalitat de Catalunya.
Pau Mota Moya
doaj +1 more source
Cat@Salut: la meva salut [PDF]
, 2015 Informació personal; Tràmits electrònics; Salut del pacientInformación personal; Trámites electrónicos; Salud del pacientePersonal information; Electronic paperwork; Pacient's healthEs presenta el portal "Cat@Salut: La Meva Salut", les seves funcions i l'
Servei Català de la Salut +1 more
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Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Indicadors de salut perinatal a Catalunya - 2019 [PDF]
, 2021 Salut perinatal; Estadístiques; CatalunyaPerinatal care; Statistics; CataloniaSalud perinatal; Estadísticas; CataluñaLes dades que es presenten en aquest document provenen del monitoratge de salut perinatal que es realitza sistemàticament mitjançant el ...
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Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini +28 more
wiley +1 more source