Results 51 to 60 of about 28,149 (256)
Small angle neutron scattering
Small Angle Neutron Scattering (SANS) is a technique that enables to probe the 3-D structure of materials on a typical size range lying from ∼ 1 nm up to ∼ a few 100 nm, the obtained information being statistically averaged on a sample whose volume is ...
Cousin Fabrice
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Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis
Abstract Objective Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.
Sarah Duerinckx +192 more
wiley +1 more source
La coévolution de l’informatique et de son histoire
Cet article se propose de montrer de quelle manière l’informatique et l’écriture de son histoire ont évolué conjointement, passant d’une vision internaliste et d’une fascination pour la machine et le matériel, à la prise en compte de « l’ordinateur en ...
Benjamin Thierry, Valérie Schafer
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Abstract Objective Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive creatine biosynthesis disorder. Reports specifically focusing on adult patients remain scarce. Methods We report a 52‐year‐old female (the oldest documented case of GAMT deficiency to date) presenting with severe intellectual disability, refractory ...
Wei‐Hung Sung +3 more
wiley +1 more source
Abstract There is increasing concern regarding pollutants disrupting the vertebrate thyroid hormone (TH) system, which is crucial for development. Thus, identification of TH system–disrupting chemicals (THSDCs) is an important requirement in the Organisation for Economic Co‐operation and Development (OECD) testing framework.
Lisa Gölz +9 more
wiley +1 more source
Hearing Impairments in Consanguineous Marriage
Consanguineous marriage is strongly favored in many large human populations. In the most parts of south Asia, consanguineous marriage account for 20% to over 50% of the general population. The effect of consanguinity on hereditary deafness has been
Younes Lotfi, Saeideh Mehrkian
doaj
Neither teacher-centred nor student-centred: threshold concepts and research partnerships
In this paper I argue that pedagogic research organised around the investigation of threshold concepts offers a fresh way of thinking about research collaboration with students, academics and educational developers. I will first introduce the basic ideas
Glynis Cousin
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In the Emily trilogy, among the characters struggling through arduous circumstances, Emily and Cousin Jimmy stand out because they hone their powers to overcome adversity through gardening.
Yoshiko Akamatsu
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Ce que l’économie fait au travail
How do actors in the context of their work define and perceive economy and efficiency measures and the role these play in their relation to work? Economy and efficiency measures can be considered as variables which are part of the work task, as are rules
Olivier Cousin
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The Swedish Arctic Fox Project: 40 years of research in ecology and conservation
The 4 central research themes in The Swedish Arctic Fox Project and key deliverables for practical conservation achieved over 4 decades. Abstract The scientific community widely recognizes the value of long‐term studies, especially those with individual‐level resolution; however, maintaining a consecutive data series is associated with multiple ...
Anders Angerbjörn +11 more
wiley +1 more source

