Mateusz Biela (M Biela)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 8

Top Topics

Catheter Ablation

Respiratory Failure

Intellectual Disability

Top Venues

Clinical genetics

Molecular genetics & genomic medicine

Journal of human genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Katarzyna Bzdęga, Mateusz Biela, Gail H Deutsch, Joseph A Kitzmiller, Małgorzata Rydzanicz, Ploski Rafal, Jeffrey A Whitsett, Robert Śmigiel, Justyna A Karolak
A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia. Clinical genetics (2023)
Mateusz Biela, Malgorzata Rydzanicz, Agnieszka Jankowska, Agnieszka Szlagatys Sidorkiewicz, Anna Rozensztrauch, Ploski Rafal, Robert Smigiel
Further Delineation of Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities Caused by ZNF699 Gene Mutation. Genes 13 (2) (2022)
Agnieszka Stembalska, Malgorzata Rydzanicz, Wojciech Walas, Piotr Gasperowicz, Agnieszka Pollak, Victor Murcia Pienkowski, Mateusz Biela, Klaniewska Magdalena, Zuzanna Gamrot, Ewa Gronska, Ploski Rafal, Robert Smigiel
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene. Genes 13 (5) (2022)
Agnieszka Stembalska, Malgorzata Rydzanicz, Klaniewska Magdalena, Lech Dudarewicz, Agnieszka Pollak, Mateusz Biela, Piotr Stawinski, Ploski Rafal, Robert Smigiel
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. Genes 13 (8) (2022)
Mateusz Biela, Malgorzata Rydzanicz, Krystyna Szymanska, Karolina Pieniawska-Smiech, Aleksandra Lewandowicz-Uszynska, Joanna Chruszcz, Lucyna Benben, Malgorzata Kuzior-Plawiak, Pawel Szyld, Aleksandra Jakubiak, Leszek Szenborn, Ploski Rafal, Smigiel Robert
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review. Molecular genetics & genomic medicine 9 (9) (2021)
Agnieszka Stembalska, Malgorzata Rydzanicz, Agnieszka Pollak, Grazyna Kostrzewa, Piotr Stawinski, Mateusz Biela, Ploski Rafal, Smigiel Robert
Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with TMEM67 Mutations. Genes 12 (7) (2021)
Smigiel Robert, Anna Biernacka, Mateusz Biela, Victor Murcia-Pienkowski, Elzbieta Szmida, Piotr Gasperowicz, Joanna Kosinska, Grazyna Kostrzewa, Agnieszka Anna Koppolu, Anna Walczak, Dominik Wawrzuta, Malgorzata Rydzanicz, Malgorzata Sasiadek, Ploski Rafal
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome. Journal of human genetics 63 (4) (2018)
R Smigiel, Mateusz Biela, A Biernacka, A Stembalska, M Sasiadek, J Kosinska, M Rydzanicz, R Ploski
New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation. Clinical genetics 92 (6) (2017)