Results 201 to 210 of about 1,078,099 (366)

Clinical Insights Into Nabais Sá‐De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nabais Sá‐De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features.
Jessica Galli   +10 more
wiley   +1 more source

MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis   +12 more
wiley   +1 more source

From Battery Manufacturing to Smart Grids: Towards a Metaverse for the Energy Sciences**

open access: yesBatteries &Supercaps, Volume 6, Issue 1, January 2023., 2023
Metaverse for batteries: We report two collaborative and immersive educative games paving the way towards a metaverse in energy sciences: a Mixed Reality one in which players optimize an electrical grid to ensure an electric vehicle to accomplish a mission, and a Virtual Reality digital twin of a battery manufacturing pilot line in which players ...
Alejandro A. Franco   +8 more
wiley   +1 more source

Listeners' impressions of speakers with and without hearing losses [PDF]

open access: bronze, 1977
Gordon W. Blood   +2 more
openalex   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson   +10 more
wiley   +1 more source

Ambiguity attitudes in qualitative contexts: The role of prior beliefs

open access: yesJournal of Behavioral Decision Making, Volume 36, Issue 1, January 2023., 2023
Abstract Most studies of ambiguity aversion rely on experimental paradigms involving monetary bets. Thus, the extent to which ambiguity aversion occurs outside of such contexts is much less understood, particularly when the situation cannot easily be reduced to numerical terms.
Joshua P. White, Andrew Perfors
wiley   +1 more source

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