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Bierbaumer Sophie Therese |

Presentations at scientific and public conferences

Blatterer, J; Hammer, S; Bierbaumer, S; Husic, R; Schmid, J; Schreiner, E; Tichy, H; Wagner, K; Verheyen, S The zebra among horses - COPA syndrome as a potentially underdiagnosed autoimmune disorder
EUR J HUM GENET. 2024; 32: 1035-1035. [Poster]
Web of Science FullText

 

Blatterer, J; Hammer, S; Wagner, K; Tichy, H; Schreiner, E; Spiegl, B; Bierbaumer, S; Smogavec, M; Lehner, R; Madritsch, S; Stadlmann, V; Hofer, M; Gerykova Bujalkova, M; Riepl, N; Umlauf, E; Mühlegger, B; Burkhard, S; Maurer, E; Schneebauer, E; Gröbner, E; Witsch-Baumgartner, M; Rötzer, K; Uyanik, G; Nagy, D; Maurer, M; Bader, I; Mayr, J; Ebner, S; Bogner, B; Pleyers, A; Kranewitter, W; Malli, T; Webersinke, G; Zschocke, J; Laccone, F; Verheyen, S Austrian Exome meetings – a nationwide competence sharing initiative
15th International Symposium on Variants in the Genome; MAY 13-15, 2024; Povoa de Varzim, PORTUGAL. 2024. [Poster]

 

Schreiner, E; Bierbaumer, S; Blatterer, J; Hammer, S; Kuehberger, S; Tichy, H; Wagner, K; Verheyen, S Phenotype expansion of SAMD9L-associated Ataxia-Pancytopenia Syndrome
EUR J HUM GENET. 2024; 32: 1039-1040. [Poster]
Web of Science FullText

 

Schreiner, E; Bierbaumer, S; Blatterer, J; Hammer, S; Speicher, M; Tichy, H; Wagner, K; Verheyen, S Zusatzbefunde in der WES-HPO-Auswertung 2019-2023 am Grazer Institut für Humangenetik.
22. Jahrestagung der Österreichischen Gesellschaft für Humangenetik ; Sep 29, 2023; Wien, Österreich. 2023. [Oral Communication]

 

Schreiner, E; Blatterer, J; Bierbaumer, S; Hammer, S; Schwerin-Nagel, A; Tichy, H; Wagner, K; Speicher, M; Verheyen, S NXN-related Robinow-syndrome – Expansion of the clinical and genetic spectrum.
34. Jahrestagung der Deutschen Gesellschaft für Humangenetik e.V. ; Mar 15-17, 2023; Kassel, Germany. 2023. [Poster]

 

Schreiner, E; Blatterer, J; Tichy, H; Bierbaumer, S; Hammer, S; Artl, M; Wagner, K; Speicher, M; Verheyen, S X-linked recessive intellectual developmental disorders in females – an overlooked cause? 3 case reports from Graz.
21. Jahrestagung der Österreichischen Gesellschaft für Humangenetik; Sept 29-30, 2022; Graz, Austria. 2022. [Oral Communication]

 

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