From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia [PDF]
Fernandes Pineda M, Zea-Vera AF.
europepmc +1 more source
The Character Error Vector: Decomposable errors for page-level OCR evaluation [PDF]
Jonathan Bourne +2 more
openalex
Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler +20 more
wiley +1 more source
Chronic mucocutaneous candidiasis, mycobacterial infections and rosacea in a Mexican adult with STAT1 gain of function [PDF]
Valerio-Gómez V +8 more
europepmc +1 more source
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel +8 more
wiley +1 more source
[Initial management of myocardial infarction code in Primary Care Teams of Central Catalonia: Effectiveness of a training program and a checklist on assistance times]. [PDF]
Cartanya-Bonvehi J +3 more
europepmc +1 more source
Results of error correction techniques applied on two high accuracy coordinate measuring machines
C. Pace +4 more
openalex +1 more source
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang +10 more
wiley +1 more source
Comprehensive approach to primary immunodeficiencies in adulthood: recognition and diagnosis. [PDF]
Muñoz-Echeverria L +2 more
europepmc +1 more source

