Results 101 to 110 of about 30,256 (281)
The Genetic Landscape of Hereditary Spastic Paraplegia in Greece
Clinical Genetics, EarlyView.We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis +19 more
wiley +1 more source
AirRacket: Perceptual Design of Ungrounded, Directional Force Feedback to Improve Virtual Racket Sports Experiences [PDF]
, 2022 Ching-Yi Tsai +6 more
openalex +1 more source
Injuries in racket sports among Slovenian players.
Collegium antropologicum, 2011 On the sample of 83 top Slovenian athletes we have studied the frequency of injuries among table tennis, tennis and badminton players, types of injuries and severity of injuries--the latter based on data of players absences from training and/or competition processes.
Kondrič, Miran +4 more
openaire +5 more sources
State College Times, February 17, 1933 [PDF]
, 1933 Volume 21, Issue 71https://scholarworks.sjsu.edu/spartandaily/12839/thumbnail ...
San Jose State University, School of Journalism and Mass Communications
core +2 more sources
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
FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype
Clinical Genetics, EarlyView.FAM20B encodes glycosaminoglycan xylosylkinase, a key enzyme in proteoglycan biosynthesis. We report compound heterozygous FAM20B variants causing severe, lethal skeletal dysplasia in three fetuses from two pregnancies. Disrupted glycosaminoglycan chain formation leads to abnormal cartilage and bone development, illustrating the essential role of ...
Arda Arduç +8 more
wiley +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
Management of Tennis elbow in racket sports – a literature review
International Journal of Racket Sports ScienceBackground: Pain from the lateral aspect of the elbow is a common symptom in racket sports, both in recreational and competitive players. In Tennis elbow (TE), the pain is elicited from the lateral epicondyle and the common extensor origin just distal ...
Martin Fahlström, Eva Zeisig
doaj
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
Jurnal Teknik Industri, 2017 Eternal racket company located in the Klayatan is a company engaged in manufacturing, where output is produced in the form of sports equipment. Given these problems, the Company is required Eternal racket must evaluate suppliers and choose which supplier
Yofa Pangestu
doaj +1 more source