Results 141 to 150 of about 3,549 (259)

Characteristics of a racketlon as a quadathlon in racket sports

open access: yes, 2018
Hlavním cílem bakalářské práce je představení racketlonu jako nového sportovního víceboje, který do České republiky pronikl v roce 2005. Tento sport by se dal specifikovat jako víceboj v raketových sportech, kde má své zastoupení stolní tenis, badminton,
Skřivánek, Petr
core  

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1192-1203, June 2026.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt   +9 more
wiley   +1 more source

THE CONTRIBUTION OF UPPER LIMB JOINTS IN THE DEVELOPMENT OF RACKET VELOCITY IN THE BADMINTON SMASH

open access: yes, 2008
The contributions of the upper limb joints in developing the racket-head velocity were calculated using the 3D video analysis technique. The performance of 13 male players in the single and double competitions during the Thomas/Uber Cup 2000 was recorded.
Rambely, Azmin Sham   +1 more
core  

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1222-1230, June 2026.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady   +10 more
wiley   +1 more source

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1261-1266, June 2026.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge   +9 more
wiley   +1 more source

Genetic Variants and Clinical Characteristics of Young‐Onset Parkinson's Disease in the Hakka Population of Western Fujian

open access: yesBrain and Behavior, Volume 16, Issue 6, June 2026.
In 33 Hakka young‐onset Parkinson's disease (YOPD) patients from western Fujian, whole exome sequencing (WES) plus spinocerebellar ataxia (SCA) panel testing and multiplex ligation‐dependent probe amplification (MLPA) defined the genetic spectrum. Pathological ATXN2 repeat expansion was detected in two cases.
Li‐Ying Pan   +5 more
wiley   +1 more source

A Smart Magnetoelastic Racket for Self-Powered Sports Analytics

open access: yes
Big data analytics powered by intelligent sensing technology has significantly advanced athletic performance across various sports. Consequently, real-time monitoring of the interaction between a table tennis ball and a racket, providing important ...
Kim, Isu
core  

Distinct Germline Mutation Landscape and Clinical Implications in Chinese Colorectal Cancer: A Large‐Scale Genomic Analysis of 1094 Patients

open access: yesCancer Medicine, Volume 15, Issue 6, June 2026.
ABSTRACT Objective To investigate the prevalence, characteristics, and clinical implications of germline mutations in a consecutive cohort of Chinese colorectal cancer (CRC) patients, providing insights that may inform population‐specific genetic testing strategies.
Liting Lu   +8 more
wiley   +1 more source

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