Beata S. Lipska-Zietkiewicz - Publications

Age-Dependent Progression of Neurological Involvement in PRPP Deficiency: Insights from a Four-Generation Family and Systematic Review.

Journal: Biomolecules

Published: July 12, 2026

From clinical suspicion to molecular detection of low-level mosaicism in NF2-related schwannomatosis via ultra-sensitive duplex sequencing.

Journal: Molecular medicine (Cambridge, Mass.)

Published: May 29, 2026

Early childhood asthma and adenotonsillectomy: From upper airway microbiota to type 2 biomarkers and clinical outcomes.

Journal: Paediatric respiratory reviews

Published: March 22, 2026

Efficacy of Calcineurin Inhibition in Children With Steroid-Resistant Nephrotic Syndrome.

Journal: Kidney international reports

Published: May 09, 2025

Diagnosis and treatment of Fabry disease. Expert Opinion of the Polish Cardiac Society and the Polish Forum for Fabry Disease.

Journal: Kardiologia polska

Published: December 05, 2024

Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: September 30, 2024

Correction to: The effect of library preparation protocol on the efficiency of heteroplasmy detection in mitochondrial DNA using two massively parallel sequencing Illumina systems.

Journal: Journal of applied genetics

Published: April 12, 2024

Classification of gliomas based on genome-wide DNA methylation profiles and immunohistochemical analysis: a short study.

Journal: Folia neuropathologica

Published: January 01, 2024

The effect of library preparation protocol on the efficiency of heteroplasmy detection in mitochondrial DNA using two massively parallel sequencing Illumina systems.

Journal: Journal of applied genetics

Published: November 06, 2023

The role of multidisciplinary diagnostic and therapeutic model of care in Lamb-Shaffer syndrome - case report.

Journal: Journal of applied genetics

Published: October 04, 2023

Estimation of the Age of the Kashubian-Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local Origin.

Journal: Human mutation

Published: September 29, 2023

Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence.

Journal: Kidney international reports

Published: September 28, 2023