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Computational and Structural Biotechnology Journal|November 28, 2025
Multi-matrix metabolomics in rare monogenic diabetes syndromes: Analysis of oral fluids and serum in carriers of pathogenic variants in the <i>ALMS1/BBS</i> genesEwa Zmysłowska-Polakowska, Patrycja Mojsak, Sebastian Skoczylas, et al.Genes|January 8, 2025
Patients with a Wide Range of Disorders Related to <i>WFS1</i> Gene Variants: Novel Mutations and Genotype-Phenotype CorrelationsJulia Grzybowska-Adamowicz, Karolina Gadzalska, Paulina Jakiel, et al.Acta Diabetologica|February 13, 2026
Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patientsTomasz Płoszaj, Sebastian Skoczylas, Karolina Gadzalska, et al.Pageof 2