Results 11 to 20 of about 3,340 (261)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

open access: yesAmerican 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

Stalker: la imagen poética de la ciencia ficción

open access: yesNuevas Poligrafías, Revista de Teoría Literaria y Literatura Comparada, 2023
El cine de ciencia ficción ha tenido importantes transformaciones vinculadas tanto a los avances tecnológicos de la industria cinematográfica como a la historia del cine en general.
Adriana Bellamy Ortiz
doaj   +1 more source

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

open access: yesHepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid   +20 more
wiley   +1 more source

Good Work? Scottish Cultural Workers’ Narratives About Working and Living on Islands [PDF]

open access: yesIsland Studies Journal, 2016
This paper sets out to ask how cultural workers on Scottish islands come to narrate their work and everyday life experiences. We ask this question in the context of two dominant doctrines that can influence whether or not these experiences are “good or ...
Lynda Harling Stalker   +1 more
doaj   +2 more sources

[REVIEW] Japan: History and Culture from Classical to Cool

open access: yesNew Voices in Japanese Studies, 2019
Japan: History and Culture from Classical to Cool, Nancy K. Stalker. University of California Press (Oakland), 2018.
Gwyn McClelland
doaj   +1 more source

Mouse laser injury models: variations on a theme

open access: yesPlatelets, 2020
A confluence of technological advances in genetic manipulation and molecular-based fluorescence imaging has led to the widespread adoption of laser injury models to study hemostasis and thrombosis in mice.
Timothy J. Stalker
doaj   +1 more source

Codi al descobert: el net art i el moviment de programari lliure

open access: yesArtnodes, 2007
En aquest article Josephine Berry estudia projectes net art com el TM Clubcard de Rachel Baker, els plagis de 0100101110101101.org, el Web Stalker del grup I/O/D i altres projectes relacionats amb el moviment del programari lliure.
Josephine Berry
doaj   +1 more source

Clinical Management of Triple-Class Refractory Multiple Myeloma: A Review of Current Strategies and Emerging Therapies

open access: yesCurrent Oncology, 2022
Major progress has been made in the upfront treatment of multiple myeloma, but the disease ultimately relapses and leads to death in the vast majority of those afflicted.
Margaret E. Stalker, Tomer M. Mark
doaj   +1 more source

Invisible

open access: yesLatin American Literary Review, 2022
Carolina Sánchez es una escritora e investigadora colombiana. Ha publicado sus textos literarios en revistas latinoamericanas y españolas como Corónica, Matera, Poesía, Zégel. Otro páramo y Temporales.
Carolina Sánchez
doaj   +1 more source

Entrevista a Francesco Careri

open access: yesSOBRE. Prácticas artísticas y políticas de la edición, 2018
Francesco Careri es profesor de Urbanismo en el Dipartimento di Architettura de la Università degli Studi Roma Tre. Su libro Walkscapes, editado con Gustavo Gili en 2002, supuso una nueva mirada sobre el paisaje, sentando las bases para el entendimiento
David Arredondo Garrido
doaj   +1 more source

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