Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.
Clinical genetics·2020
NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders.
The Journal of neuroscience : the official journal of the Society for Neuroscience·2008
Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH.
Cytogenetic and genome research·2007
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.
European journal of pediatrics·2000
Coordinate induction of energy gene expression in tissues of mitochondrial disease patients.
The Journal of biological chemistry·1999
Cross-Neutralization Responses and Persistent Symptoms After SARS-CoV-2 Breakthrough Infections.
Journal of medical virology·2026
Human airspace macrophage signatures are conserved during sterile lung injury and repair.
American journal of respiratory and critical care medicine·2026
Interferon-λ Receptor Positive Monocytes/Macrophages Orchestrate a Pro-fibrotic Immune Environment in Hepatitis B Virus-Related Liver Fibrosis.
Clinical science (London, England : 1979)·2026