Functional, biochemical, and clinical characterization of natural mutations affecting arginine residues in the heparin-binding site of antithrombin22 April 2026
De novo mutations in antithrombin deficiency: high frequency and heterogeneous mechanisms29 January 2026
CALRins5-mediated clonal hematopoiesis causes severe hemolytic anemia in a female PGK1Ser320Asn carrier1 February 2025
Landscape of antisense genes in the human genome and identification of new human hepatic antisense RNAs by long-read sequencing27 November 2024
Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpins5 July 2024
The whole is greater than the sum of its parts: Long-read sequencing for solving clinical problems in haematology23 January 2024
Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders23 November 2023
Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect1 October 2023
