Results 81 to 90 of about 30,171 (238)
Acta Ophthalmologica, EarlyView.Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic +10 more
wiley +1 more source
A narrative review of Achilles tendon ruptures in racket sports
International Journal of Racket Sports ScienceThis review aims to enlighten the existing research about Achilles tendon ruptures (ATR) in racket sports. Further, this review will also include the acute management, rehabilitation, treatment and prognosis of an ATR.
Elin Larsson +5 more
doaj
Spartan Daily, May 7, 1947 [PDF]
, 1947 Volume 35, Issue 130https://scholarworks.sjsu.edu/spartandaily/13006/thumbnail ...
San Jose State University, School of Journalism and Mass Communications
core +1 more source
Non‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions
Clinical Genetics, EarlyView.Exome sequencing identified a diagnosis in 35% of 91 individuals with non‐isolated Dandy Walker malformation (DWM+). Only 24%–55% of these diagnoses could be made using a gene panel. We then demonstrated that DWM is a feature of disorders associated with ANKRD11, C2CD3, COL4A1, KMT2D, KRAS, OPHN1, SHOC2, SMARCB1, and WDR73.
Sarah Araji +4 more
wiley +1 more source
Victorian entertainments : "we are amused" : an exhibit illustrating Victorian entertainment. [PDF]
, 2007 Midwest Victorian Studies Association.
Arnstein, Walter L. +2 more
core
Clinical Genetics, EarlyView.PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen +5 more
wiley +1 more source
Probabilistic movement modeling for intention inference in human-robot interaction.
, 2013 Intention inference can be an essential step toward efficient humanrobot interaction. For this purpose, we propose the Intention-Driven Dynamics Model (IDDM) to probabilistically model the generative process of movements that are directed by the ...
Anderson R +21 more
core +2 more sources
Regressing to Nature: Culture Industry and Fascism in Times of Ecological Crisis
Constellations, EarlyView.
Heiko Stubenrauch
wiley +1 more source
Prevalence of traded bird species in key biodiversity areas
Conservation Biology, EarlyView.Abstract The use and trade of biodiversity involve tens of thousands of species that are exploited at a range of scales, intensities, and degrees of sustainability. As a result, some are highly threatened. Key biodiversity areas (KBAs) are sites of significance for the persistence of biodiversity identified nationally based on standardized criteria ...
Oscar Morton +4 more
wiley +1 more source
The compulation and classification of physical fitness, motor ability, and sports skills tests in physical education. [PDF]
, 1959 Thesis (Ed.M.)--Boston ...
Johnson, Ruth A +2 more
core +1 more source