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Anna Fliedner
List of publications:
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Lehrstuhl für Humangenetik
Department of Radiation Oncology
Publications
(10)
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Journal article
Journal article
Book chapter / Article in edited volumes
Book chapter / Article in edited volumes
Authored book
Authored book
Translation
Translation
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Thesis
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Edited Volume
Conference contribution
Conference contribution
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Unpublished / Preprint
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Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6 (2022)
Gerber CB, Fliedner A, Bartsch O, Berland S, Dewenter M, Haug M, Hayes I, et al.
Journal article
SCAF4 loss of function in humans and Drosophila implicates mRNA transcriptional termination in neuro-developmental disorders (2020)
Fliedner A, Kirchner P, Agre KE, De Graaf-Van De Laar I, Clarke MD, Davis-Keppen L, Ekici AB, et al.
Conference contribution
Loss of PHF6 leads to aberrant development of human neuron-like cells (2020)
Fliedner A, Gregor A, Ferrazzi F, Ekici AB, Sticht H, Zweier C
Journal article
Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster (2020)
Straub J, Gregor A, Sauerer T, Fliedner A, Distel L, Suchy C, Ekici AB, et al.
Journal article
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing (2020)
Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, et al.
Journal article
Genetic Interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster (2019)
Straub J, Sauerer T, Fliedner A, Distel L, Suchy C, Ekici AB, Ferrazzi F, et al.
Conference contribution, Abstract of a poster
De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila (2019)
Straub J, Konrad E, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, et al.
Conference contribution
Magnetic Tissue Engineering of the Vocal Fold Using Superparamagnetic Iron Oxide Nanoparticles (2019)
Poettler M, Fliedner A, Bergmann J, Bui LK, Mühlberger M, Braun C, Graw M, et al.
Journal article
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila (2018)
Straub J, Konrad E, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, et al.
Journal article
Impact of Superparamagnetic Iron Oxide Nanoparticles on Vocal Fold Fibroblasts: Cell Behavior and Cellular Iron Kinetics (2017)
Poettler M, Fliedner A, Schreiber E, Janko C, Friedrich RP, Bohr C, Döllinger M, et al.
Journal article