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Author

Jagoda Góra

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Open access Sep 2026

Atypical Renal Hypoplasia in HNF1B-Related Disease: The Clinical Impact of Early Genetic Diagnosis

Background: Genetic testing is an increasingly important component in the diagnostic evaluation of kidney diseases. Pathogenic variants in the HNF1B gene cause a disorder classically known as renal cysts and diabetes (RCAD) syndrome, typically characterised by bilateral renal cysts, diabetes mellitus, and a broad spect...

Filip Koszałka, Aleksandra Gałan, Amir Nour Mohammadi et al. · 0 citations
Review Open access Sep 2026

Application of Whole-Exome Sequencing in Identifying the Molecular Basis of Idiopathic Male Infertility

Male infertility represents a major clinical challenge. Despite standard genetic testing (karyotyping, Y-chromosome azoospermia factor (AZF) microdeletion testing, and CFTR variant analysis), the molecular cause remains unidentified in a substantial proportion of patients. These patients are consequently diagnosed with...

Filip Koszałka, Aleksandra Gałan, Oliwier Bułdak et al. · 0 citations

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