Anna Sowinska-Seidler (Anna Sowińska-Seidler)

Publication Activity (10 Years)

Years Active: 2018-2022
Publications (10 Years): 5

Top Topics

Autism Spectrum Disorder

Dna Methylation

High Throughput Sequencing

Top Venues

Journal of applied genetics

Birth defects research

Scientific reports

Molecular genetics and genomics : MGG

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

Publications

Jacob W P Potuijt, Anna Sowinska-Seidler, Ewelina M Olech, Picard Nguyen, Aleksander Jankowski, Frank Magielsen, Karolina Matuszewska, Christianne A van Nieuwenhoven, Robert-Jan H Galjaard, Annelies de Klein, Aleksander Jamsheer
The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions. Molecular genetics and genomics : MGG 297 (5) (2022)
Ewelina M Olech, Anna Sowinska-Seidler, Krzysztof Szczaluba, Aleksander Jamsheer
A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2. Birth defects research 112 (9) (2020)
Ewelina M Olech, Delfina Popiel, Grzegorz Koczyk, Anna Sowinska-Seidler, Magdalena Socha, Bartosz Wojciechowicz, Adam Dawidziuk, Dawid Larysz, Aleksander Jamsheer
Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis. Scientific reports 10 (1) (2020)
Ewelina M Olech, Anna Sowinska-Seidler, Filip Łojek, Delfina Popiel, Joanna Walczak-Sztulpa, Aleksander Jamsheer
Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review. Journal of applied genetics 62 (1) (2020)
Anna Sowinska-Seidler, Ewelina M Olech, Magdalena Socha, Dawid Larysz, Aleksander Jamsheer
Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation. Journal of applied genetics 59 (3) (2018)