Sebastian Skoczylas

11PUBLICATIONS
23CO-AUTHORS
Cell and nuclear divisionCancer geneticsMedical biochemistry - carbohydratesInfant and child healthRespiratory diseases
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Publications (11)

|Apr 27, 2026
Selected Brain Metabolites and Mitochondrial DNA Copy Number as Potential Markers of Ongoing Neurodegeneration in Patients with Wolfram Syndrome.

|Jan 27, 2026
Germline BRCA1/2 Variants in Polish Patients with Family History of Breast and Ovarian Cancer: Prevalence, CNV Detection, and Identification of a Novel Loss-of-Function Mutation.

Sebastian Skoczylas, Tomasz Płoszaj, Izabela Dróżdż

|Nov 27, 2025
Evaluation of the Oral Microbiome in Patients with Alström and Bardet-Biedl Syndromes and Their Heterozygous Family Members.

Ewa Zmysłowska-Polakowska, Tomasz Płoszaj, Sebastian Skoczylas

|Oct 29, 2025
The Clinical and Diagnostic Characterization of 6q24-Related Transient Neonatal Diabetes Mellitus: A Polish Pediatric Cohort Study.

Michał Pietrusiński, Julia Grzybowska-Adamowicz, Tomasz Płoszaj

|Sep 27, 2025
Impact of CARD14 rs34367357 Mutation, Nutrition Status, and Seasonality on the Response to Biologic Therapy in Psoriasis-A Retrospective Observational Single-Center Study.

Michał Niedźwiedź, Agnieszka Czerwińska, Janusz Krzyścin

|Mar 26, 2025
Mitochondrial DNA variants revealed by whole exome sequencing: from screening to diagnosis and follow-up.

Sebastian Skoczylas, Tomasz Płoszaj, Karolina Gadzalska

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Frequent Collaborators

7 joint publications

Agnieszka Zmysłowska

4 joint publications

Julia Grzybowska-Adamowicz

3 joint publications

Ewa Zmysłowska-Polakowska

2 joint publications

Michal Ciborowski