Results 191 to 200 of about 3,549,980 (276)

A transdisciplinary framework for chronic illness and chronic pain: a sequential qualitative meta-synthesis. [PDF]

Front Public Health
Safavi-Abbasi S, Tasker R, Reyes PM, Doyle B, Dibaj P, Venezia EA.   +5 more
europepmc   +1 more source

Human induced pluripotent stem cell‐derived cortical neurons from monozygotic twins with the Gαo1K278del mutation reveal disease mechanisms relevant to GNAO1‐related encephalopathy

Epilepsia, EarlyView.
Abstract Objective Rare de novo variants in GNAO1 cause a severe neurodevelopmental disorder characterized by a heterogenous display of early onset epilepsy, movement abnormalities, and global developmental delay. More than 100 pathogenic variants in GNAO1 have been identified and categorized into four groups according to their protein features.
Maria Sáez González, Kes Kloosterhuis, Jeroen Vreijling, Hailiang Mei, Tom P. Hellings, Davide Pirolli, Anine H. Stam, Arn M. J. M. van den Maagdenberg, Vivi M. Heine, Jean‐Philippe Frimat, Laura A. van de Pol, Frank Baas, Harald M. M. Mikkers   +12 more
wiley   +1 more source

Deconstructing the Interoperability Stack: A Comparative Technical Analysis of HL7 v2, CDA, and the FHIR Resource Framework. [PDF]

Comput Struct Biotechnol J
Tiwari V, Jha S, Geddam R, Awais M, Khan MA, Ghayvat H.   +5 more
europepmc   +1 more source

Shared molecular pathways in pediatric genetic epilepsies: Insights from a single‐center cohort of 80 patients

Epilepsia Open, EarlyView.
Abstract Objective Genetic epilepsies in childhood are highly heterogeneous, and approaches to identify shared biological mechanisms across distinct genetic etiologies remain limited. We aimed to investigate whether genes associated with pediatric genetic epilepsies in our heterogeneous cohort converge on common functional pathways.
Laura Hecher, Mathias Woidy, Franziska Plein, Tatjana Bierhals, Leonie von Elsner, Theresia Herget, Maja Hempel, Fanny Kortüm, Lev Grinstein, Julia V. Cramer, Jessika Johannsen, Jonas Denecke   +11 more
wiley   +1 more source

A system information modelling method in the cross-disciplinary project collaboration context for industrial digitalisation. [PDF]

Sci Rep
Lyu Q, Zhou B, Skjæveland MG, Kamburjan E, Schüller A, Cameron DB, Rao Y, Kiritsis D, Waaler A.   +8 more
europepmc   +1 more source

Visitor‐I and dual worldmaking: Queer museology between Tuntenhaus and the Schwules Museum

Feminist Anthropology, EarlyView.
Abstract This article develops the visitor‐I as an embodied protocol for analyzing how queer archival exhibitions choreograph perception, affect, and learning, and it uses dual worldmaking as a bounded heuristic to name the relation between lived worldmaking in the Tuntenhaus squat and curatorial worldmaking in the museum, and I argue that the visitor ...
Melike Atmanoğlu
wiley   +1 more source

Semantic architectures for domain-specific programming AI agents: lessons from a JavaScript semantic assistant. [PDF]

Sci Rep
Ishaq M, Sarmad M, Asim M, Cengiz K, Ivković N.   +4 more
europepmc   +1 more source

“You just want to re‐open our biggest wounds, don't you?”: Homeplace ethnography as (polluted) environmental method

Feminist Anthropology, EarlyView.
Abstract When I was 12, my family told me a story about their community falling apart and coming together, a time when someone tried putting a nuclear facility in their (our?) hometown. Since we moved when I was too young to remember, the story had little significance until I embarked on a “hometown” ethnographic journey for my dissertation.
Chandler L. Classen
wiley   +1 more source

Accelerating environmental health sciences through data and metadata standards to support FAIR principles. [PDF]

Sci Rev
Hines D, Bian J, Ceger P, Deziel NC, Harris N, He X, Hu H, Cummins MR, Moxon S, Mungall CJ, Niu S, Tao C, Toro S, Burger A, O'Connor MJ, Musen MA, Vasiliou V, Cheung KH, Hamilton CM, Gouripeddi R.   +19 more
europepmc   +1 more source