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16p13.3
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Mgr. Alena Musilová
External person at Second Faculty of Medicine
12 publications
Publications
publication
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
2024 |
Second Faculty of Medicine
publication
COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria
2023 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Genetic testing in children enrolled in epilepsy surgery program. A real-life study
2023 |
Second Faculty of Medicine, Central Library of Charles University
publication
Genetic Testing for Malformations of Cortical Development
2022 |
Second Faculty of Medicine
publication
DUX4r, ZNF384r and PAX5-P80R mutated B-cell precursor acute lymphoblastic leukemia frequently undergo monocytic switch
2021 |
Second Faculty of Medicine
publication
Molecular Basis of Cisplatin Resistance in Testicular Germ Cell Tumors
2019 |
Second Faculty of Medicine, First Faculty of Medicine, Third Faculty of Medicine
publication
ERG deletions in childhood acute lymphoblastic leukemia with DUX4 rearrangements are mostly polyclonal, prognostically relevant and their detection rate strongly depends on screening method sensitivity
2019 |
Second Faculty of Medicine
publication
Genomic landscape of pediatric B-other acute lymphoblastic leukemia in a consecutive European cohort
2019 |
Second Faculty of Medicine
publication
Low HOX gene expression in PML-RAR-positive leukemia results from suppressed histone demethylation
2018 |
Second Faculty of Medicine, Central Library of Charles University
publication
Wilms tumor gene 1 (WT1), TP53, RAS/BRAF and KIT aberrations in testicular germ cell tumors
2016 |
Second Faculty of Medicine, Central Library of Charles University, First Faculty of Medicine, Third Faculty of Medicine
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