Disease: Lowry syndrome
- <em>RPS6KA3</em>-Related Intellectual Disability
- A Bivalent Omicron-BA.4/BA.5-Adapted BNT162b2 Booster in ≥12-Year-Olds
- A dynamic Norwood mortality estimation: Characterizing individual, updated, predicted mortality trajectories after the Norwood operation
- A Multiplexed SERS Microassay for Accurate Detection of SARS-CoV-2 and Variants of Concern
- Airway management of a patient with coffin-lowry syndrome: a case report
- An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report
- Artificial Intelligence Frameworks to Detect and Investigate the Pathophysiology of Spaceflight Associated Neuro-Ocular Syndrome (SANS)
- Chewing and swallowing training in Coffin-Lowry syndrome: A case report
- Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar Programme and the Association of Genetic Nurs
- Craniofacial Microsomia, Associated Congenital Anomalies, and Risk Factors in 63 Cases from the Alberta Congenital Anomalies Surveillance System
- Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
- Delayed postnatal brain development and ontogenesis of behavior and cognition in a mouse model of intellectual disability
- Delineating the phenotype of RNU4ATAC-related spliceosomopathy
- Dexmedetomidine Withdrawal Syndrome in Children in the PICU: Systematic Review and Meta-Analysis
- Establishment of linkage phase, using Oxford Nanopore Technologies, for preimplantation genetic testing of Coffin-Lowry syndrome with a <em>de novo RPS6KA3</em> mutation
- Establishment of linkage phase, using Oxford Nanopore Technologies, for preimplantation genetic testing of Coffin-Lowry syndrome with a de novo RPS6KA3 mutation
- Evaluation of Administrative Data for Identifying Maternal Opioid Use at Delivery in Florida
- Evaluation of Illumina® COVIDSeq™ as a tool for Omicron SARS-CoV-2 characterisation
- Gut Microbiome and Lipidome Signatures in Irritable Bowel Syndrome Patients from a Low-Income, Food-Desert Area: A Pilot Study
- High-Sensitivity Cardiac Troponin for Risk Assessment in Patients With Chronic Coronary Artery Disease
- Identification of RSK substrates using an analog-sensitive kinase approach
- Implementation of a high sensitivity cardiac troponin I assay and risk of myocardial infarction or death at five years: observational analysis of a stepped wedge, cluster randomised controlled trial
- Improving Risk Stratification for Patients With Type 2 Myocardial Infarction
- Insights from the hereditary endocrine clinic
- Machine learning for diagnosis of myocardial infarction using cardiac troponin concentrations
- Nursing Implications for Tianeptine Use and Misuse
- Prenatal findings in 11 cases with craniofacial microsomia using the Alberta Congenital Anomalies Surveillance System, 1997-2019
- RNU4atac-opathy
- The Alberta Congenital Anomalies Surveillance System: a 40-year review with prevalence and trends for selected congenital anomalies, 1997-2019
- Troponin in acute chest pain to risk stratify and guide effective use of computed tomography coronary angiography (TARGET-CTCA): a randomised controlled trial
- Use of Intravenous Anakinra for Management of Pediatric Cytokine Storm Syndromes at an Academic Medical Center
- Vitex agnus castus effects on hyperprolactinaemia