Mateusz Biela

Wroclaw, DS 50368, Poland

Last Updated: 09/26/2026

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Found 20 publications

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

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

Journal: Journal of clinical medicine

Published: November 07, 2025

The Advancement of Appendicitis in Children in the Pre-Pandemic and the Pandemic Year.

The Advancement of Appendicitis in Children in the Pre-Pandemic and the Pandemic Year.

Journal: Journal of clinical medicine

Published: August 27, 2024

Case Report: Expanded delineation of phenotype of TRPM3-related neurodevelopmental disorders.

Case Report: Expanded delineation of phenotype of TRPM3-related neurodevelopmental disorders.

Journal: Frontiers in pediatrics

Published: May 19, 2024

Epilepsy with eyelid myoclonia in a patient with ATP1A3-related neurologic disorder.

Epilepsy with eyelid myoclonia in a patient with ATP1A3-related neurologic disorder.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: April 16, 2024

A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.

A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.

Journal: Clinical genetics

Published: July 17, 2023

COVID-19 mRNA BNT162b2 vaccine safety and B-cell and T-cell reactogenicity among children with a history of paediatric multisystem inflammatory syndrome temporally associated with COVID-19 (PIMS-TS) - preliminary study.

COVID-19 mRNA BNT162b2 vaccine safety and B-cell and T-cell reactogenicity among children with a history of paediatric multisystem inflammatory syndrome temporally associated with COVID-19 (PIMS-TS) - preliminary study.

Journal: Vaccine

Published: November 08, 2022

COVID-19 mRNA BNT162b2 vaccine immunogenicity among children with a history of paediatric multisystem inflammatory syndrome temporally associated with COVID-19 (PIMS-TS).

COVID-19 mRNA BNT162b2 vaccine immunogenicity among children with a history of paediatric multisystem inflammatory syndrome temporally associated with COVID-19 (PIMS-TS).

Journal: Vaccine

Published: November 08, 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.

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.

Journal: Genes

Published: July 11, 2022

Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene.

Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene.

Journal: Genes

Published: March 05, 2022

Destabilization of mutated human PUS3 protein causes intellectual disability.

Destabilization of mutated human PUS3 protein causes intellectual disability.

Journal: Human mutation

Published: February 21, 2022

Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation.

Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation.

Journal: Genes

Published: December 06, 2021

Distinct characteristics of multisystem inflammatory syndrome in children in Poland.

Distinct characteristics of multisystem inflammatory syndrome in children in Poland.

Journal: Scientific reports

Published: August 06, 2021

Showing 1-12 of 20

Last Updated: 09/26/2026