Documentation. Centre du Québec méridional. Ministère de l’industrie et du commerce. Division des Études régionales. Québec 1963. 40 planches avec commentaires et tableaux. [PDF]
Jean Raveneau
openalex +1 more source
Evaluation of Quality of Record-Keeping and Root Canal Therapy Performed by Two Predoctoral Cohorts. [PDF]
Yeoh WC+6 more
europepmc +1 more source
Calcium modulating ligand confers risk for Parkinson's disease and impacts lysosomes
Abstract Objective Several genetic loci known to confer risk for Parkinson's disease (PD) function in lysosomal pathways. We systematically screened common variants linked to PD risk by genome‐wide association studies (GWAS) for impact on cerebrospinal fluid (CSF) proteins reflecting lysosomal function.
Hanwen Zhang+16 more
wiley +1 more source
Presence and Content of Goals-of-Care Documentation for Patients With Adult Congenital Heart Disease at End-of-Life. [PDF]
Meno MK+4 more
europepmc +1 more source
LINC00323 variant is associated with increased risk of essential tremor
Abstract Essential tremor (ET) is a common adult movement disorder, with accumulating evidence suggesting that genetic factors primarily account for ET risk. However, replication studies on the genetic variants have yielded inconsistent results. In our case–control study, we show that the LINC00323 variant, identified in a European GWAS study, is ...
Brendan Tan+11 more
wiley +1 more source
Abstract Objectives Intravenous immunoglobulin (IVIg) is an effective treatment for Guillain–Barré syndrome (GBS), but recovery varies between patients. This study aims to evaluate the pharmacokinetics (PK) and pharmacodynamics (PD) of a single and a second IVIg dose (SID) in patients with GBS.
Sander J. van Tilburg+7 more
wiley +1 more source
Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng+6 more
wiley +1 more source
Unveiling documentation deficiencies: a clinical audit of histopathology request forms at a tertiary care hospital. [PDF]
Tariq MD+8 more
europepmc +1 more source