Magdalena Koczkowska
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Publications (3)
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|Jul 13, 2024
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].Yunjia Chen, Yulong Fu, Magdalena Koczkowska
|May 15, 2023
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.Magdalena Koczkowska, Yunjia Chen, Jing Xie
|Mar 24, 2017
Application of high-resolution genomic profiling in the differential diagnosis of liposarcoma.Magdalena Koczkowska, Beata Stefania Lipska-Ziętkiewicz, Mariola Iliszko
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