Correction to "AI-Driven <i>De Novo</i> Design and Development of Nontoxic DYRK1A Inhibitors". [PDF]
J Med ChemGarcía EG +9 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley +1 more source
"From hero to villain" tracheovascular fistula as an unusual complication of a silicone stent in tracheal stenosis due to brachiocephalic trunk aneurysm. [PDF]
Respir Med Case RepSánchez-Cabral O +4 more
europepmc +1 more source
fiscalización de los partidos políticos. Sergio Garcia Ramirez y su paso por el IFE
José Luis López Chavarría
openalex +2 more sources
Schizophrenia Genetics Modulates Clinical Depressive Features
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Schizophrenia (SCZ) genetic liability, quantified by polygenic scores (PGS), may influence clinical phenotypes in major depressive disorder (MDD). We investigated the effect of the SCZ‐PGS derived from the latest SCZ genome‐wide association study (GWAS) on MDD symptom severity, comorbidities, and treatment outcomes.
Alessandro Serretti +13 more
wiley +1 more source
Modified Sliding Fibular Graft for Aneurysmal Bone Cyst of the Lateral Malleolus: Technique and Two-Case Series. [PDF]
Foot Ankle OrthopMarques de Oliveira F +5 more
europepmc +1 more source
Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón +10 more
wiley +1 more source
Internal fixation versus revision arthroplasty for Vancouver B2-B3 fractures: mortality and functional outcomes in frail patients. Insights from the PIPPAS study of 485 patients. [PDF]
J Orthop TraumatolMoreta J +151 more
europepmc +1 more source
Macroeconomic Volatility and Income Inequality in a Stochastically Growing Economy [PDF]
Cecilia Garcia-Penalosa +1 more
core
Australian Journal of Social Issues, EarlyView.ABSTRACT Alcohol and other drug‐facilitated sexual violence can have significant impacts on victim‐survivors, yet little is known about what support service providers offer them. To understand the experiences and perceptions of service providers, interviews with counsellors, health workers, forensic toxicologists and harm reduction workers were ...
Jessica Ison +5 more
wiley +1 more source