Magdalena Koczkowska

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 4

Top Topics

Top Venues

Molecular cytogenetics

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

Publications

Yunjia Chen, Yulong Fu, Magdalena Koczkowska, Tom Callens, Alicia Gomes, Jian Liu, William Bradley, Bryce Brown, Brandon Shaw, Daniela D'Agostino, Chuanhua Fu, Deeann Wallis
Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a]. Cancers 16 (13) (2024)
Yunjia Chen, Yulong Fu, Magdalena Koczkowska, Tom Callens, Alicia Gomes, Jian Liu, William Bradley, Bryce Brown, Brandon Shaw, Daniela D'Agostino, Chuanhua Fu, Deeann Wallis
Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a]. Cancers 16 (13) (2024)
Magdalena Koczkowska, Yunjia Chen, Jing Xie, Tom Callens, Alicia Gomes, Katharina Wimmer, Ludwine M Messiaen
Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II. Human genetics (2023)
Magdalena Koczkowska, Beata Stefania Lipska-Ziętkiewicz, Mariola Iliszko, Janusz Ryś, Markku Miettinen, Jerzy Lasota, Wojciech Biernat, Agnieszka Harazin-Lechowska, Anna Kruczak, Janusz Limon
Application of high-resolution genomic profiling in the differential diagnosis of liposarcoma. Molecular cytogenetics 10 (2017)