Sebastian Skoczylas

Lodz, LD, Poland

Last Updated: 09/26/2026

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Found 18 publications

Integrated Oral Microbiome and Metabolome Profiling Identifies Disease-Associated Multi-Omics Signatures in Alström and Bardet-Biedl Syndromes.

Integrated Oral Microbiome and Metabolome Profiling Identifies Disease-Associated Multi-Omics Signatures in Alström and Bardet-Biedl Syndromes.

Journal: Computational and structural biotechnology journal

Published: May 29, 2026

Unrecognized mitochondrial diabetes cases in a group of patients with type 2 diabetes.

Unrecognized mitochondrial diabetes cases in a group of patients with type 2 diabetes.

Journal: Acta diabetologica

Published: May 04, 2026

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

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

Journal: Metabolites

Published: March 13, 2026

Multi-matrix metabolomics in rare monogenic diabetes syndromes: Analysis of oral fluids and serum in carriers of pathogenic variants in the ALMS1/BBS genes.

Multi-matrix metabolomics in rare monogenic diabetes syndromes: Analysis of oral fluids and serum in carriers of pathogenic variants in the ALMS1/BBS genes.

Journal: Computational and structural biotechnology journal

Published: November 28, 2025

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.

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.

Journal: Current oncology (Toronto, Ont.)

Published: September 29, 2025

Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients.

Search for the most precise diagnosis of monogenic diabetes - the usefulness of short-read NGS method in molecular testing in Polish patients.

Journal: Acta diabetologica

Published: September 26, 2025

Evaluation of the Oral Microbiome in Patients with Alström and Bardet-Biedl Syndromes and Their Heterozygous Family Members.

Evaluation of the Oral Microbiome in Patients with Alström and Bardet-Biedl Syndromes and Their Heterozygous Family Members.

Journal: Microorganisms

Published: September 18, 2025

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

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

Journal: Biomedicines

Published: September 08, 2025

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

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

Journal: Journal of clinical medicine

Published: August 19, 2025

Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene.

Neurological manifestations of Allgrove syndrome in patients carrying a potentially founder p.Ser263Pro variant in the AAAS gene.

Journal: Neurogenetics

Published: June 24, 2025

Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype-Phenotype Correlations.

Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype-Phenotype Correlations.

Journal: Genes

Published: November 19, 2024

Mitochondrial DNA variants revealed by whole exome sequencing: from screening to diagnosis and follow-up.

Mitochondrial DNA variants revealed by whole exome sequencing: from screening to diagnosis and follow-up.

Journal: Neurogenetics

Published: October 24, 2024

Showing 1-12 of 18

Last Updated: 09/26/2026