Results 251 to 260 of about 3,008,012 (393)

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

External quality assessment of molecular detection and variant typing of SARS-CoV-2 in European expert laboratories in 2023. [PDF]

J Clin Microbiol
Heimsch KC, Stanoeva KR, Mögling R, Kraus A, Broberg EK, Drexler JF, Reusken CBEM, Meijer A, Drosten C, Corman VM.   +9 more
europepmc   +1 more source

Lupus anticoagulant: case-based external quality assessment

, 2009
A.M.H.P. van den Besselaar, Katrien Devreese, P G de Groot, Ad Castel   +3 more
openalex   +2 more sources

First international external quality assessment for hepatitis delta virus RNA quantification in plasma

Hepatology, 2016
F. Le Gal, S. Brichler, R. Sahli, S. Chevret, E. Gordien   +4 more
semanticscholar   +1 more source

Lesion Location and Functional Connections Reveal Cognitive Impairment Networks in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive impairment, fatigue, and depression are common in multiple sclerosis (MS), potentially due to disruption of regional functional connectivity caused by white matter (WM) lesions. We explored whether WM lesions functionally connected to specific brain regions contribute to these MS‐related manifestations.
Alessandro Franceschini, Paolo Preziosa, Paola Valsasina, Damiano Mistri, Monica Margoni, Federica Esposito, Massimo Filippi, Maria A. Rocca   +7 more
wiley   +1 more source

Setting up an external quality assessment scheme to assess the effectiveness of microbiology testing currently carried out in heart valve banking. [PDF]

Cell Tissue Bank
Nita P, Aishwarya A, Jennifer H, Sharon Z.   +3 more
europepmc   +1 more source

External Quality Assessment Unravels Interlaboratory Differences in Quality of RAS Testing for Anti-EGFR Therapy in Colorectal Cancer [PDF]

, 2015
Véronique Tack, Marjolijn J. L. Ligtenberg, Lien Tembuyser, Nicola Normanno, Sara Vander Borght, J. Han van Krieken, Elisabeth Dequeker   +6 more
openalex   +1 more source

Analytical performance specifications for external quality assessment – definitions and descriptions

Clinical Chemistry and Laboratory Medicine, 2017
Graham R D Jones, S. Albarède, D. Kesseler, F. Mackenzie, J. Mammen, M. Pedersen, A. Stavelin, M. Thelen, A. Thomas, P. Twomey, E. Ventura, M. Panteghini   +11 more
semanticscholar   +1 more source

The External Quality Assessment of Hormone Assays

Journal of Clinical Biochemistry and Nutrition, 1987
openaire   +2 more sources

The Impact of Tilburg Frailty on Poststroke Fatigue in First‐Ever Stroke Patients: A Cross‐Sectional Study With Unified Measurement Tools and Improved Statistics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Poststroke fatigue (PSF) and frailty share substantial overlap in their manifestations, yet previous research has yielded conflicting results due to the use of heterogeneous frailty assessment tools. Objective To evaluate the independent impact of frailty on PSF using a unified measurement system (Tilburg Frailty Indicator, TFI ...
Chuan‐Bang Chen, Xiao‐Xue Wang, Shao‐Rui Bao, Sui‐Li Lin, Mei‐Chun Shu, Xi‐Xi Ye, Wen‐Jie Cong   +6 more
wiley   +1 more source