Mateusz Biela

12PUBLICATIONS
31CO-AUTHORS
Child and adolescent developmentInfant and child healthDevelopmental genetics (incl. sex determination)Haematological tumoursMedical genetics (excl. cancer genetics)
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Publications (12)

|Sep 26, 2026
Clinical, Neuroimaging, and Molecular Characterization of a Juvenile PLAN-like Phenotype in Two Siblings Carrying p.Arg645Gln and an Unresolved Exon 4-7 Copy-Number Gain: A Case Report.

|Dec 11, 2025
Neurodevelopmental Disorder with Psychomotor Delay, Hearing Loss, and Spasticity Caused by Compound Heterozygous SPATA5L1 Variants-Expanding Phenotype.

Artur Polczyk, Ewelina Wolańska, Anna Zimny

|Oct 26, 2024
The Advancement of Appendicitis in Children in the Pre-Pandemic and the Pandemic Year.

Marcin Jerzy Owczarzak, Mateusz Biela, Mateusz Paplicki

|Oct 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndrome.

Karim Karimi, Denisa Weis, Ingvild Aukrust

|Oct 11, 2023
A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.

Katarzyna Bzdęga, Mateusz Biela, Gail H Deutsch

|Jul 27, 2022
Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene-Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias.

Agnieszka Stembalska, Małgorzata Rydzanicz, Magdalena Klaniewska

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Frequent Collaborators

7 joint publications

Rafal Ploski

5 joint publications

Malgorzata Rydzanicz

5 joint publications

Robert Smigiel

2 joint publications

Agnieszka Stembalska