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Last Updated: 03/06/2025
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Found 190 publications
High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.
Journal: International journal of molecular sciences
Published: April 16, 2024
FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations.
Journal: Connective tissue research
Published: April 11, 2024
Missense variants of FBN2 associated with congenital arachnodactyly in three Chinese families.
Journal: Molecular genetics and metabolism reports
Published: February 05, 2024
Tumour stage and overall survival in patients with intrahepatic cholangiocarcinoma and primary sclerosing cholangitis - a retrospective cohort study.
Journal: Zeitschrift fur Gastroenterologie
Published: January 09, 2024
A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly.
Journal: Biochemical genetics
Published: September 03, 2023
Reproducibility matters: intra- and inter-sample variation of the point-of-care circulating cathodic antigen test in two Schistosoma mansoni endemic areas in Uganda.
Journal: Philosophical transactions of the Royal Society of London. Series B, Biological sciences
Published: August 20, 2023
Discrepancies in clavicle-to-carotid bifurcation length measurements for transcarotid artery revascularization using different imaging modalities.
Journal: Journal of vascular surgery
Published: June 26, 2023
A patient with pleuroparenchymal fibroelastosis carrying a novel fibrillin-2 gene variant.
Journal: Respiratory medicine case reports
Published: February 26, 2023
Highlighter: An optogenetic system for high-resolution gene expression control in plants.
Journal: PLoS biology
Published: October 05, 2022
Last Updated: 03/06/2025