Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
Latham, Sharissa L., Ehmke, Nadja, Reinke, Patrick Y. A., Taft, Manuel H., Eicke, Dorothee, Reindl, Theresia, Stenzel, Werner, Lyons, Michael J., Friez, Michael J., Lee, Jennifer A., Hecker, Ramona, Frühwald, Michael C., Becker, Kerstin, Neuhann, Teresa M., Horn, Denise, Schrock, Evelin, Niehaus, Indra, Sarnow, Katharina, Grützmann, Konrad, Gawehn, Luzie, Klink, Barbara, Rump, Andreas, Chaponnier, Christine, Figueiredo, Constanca, Knöfler, Ralf, Manstein, Dietmar J., Di Donato, Nataliya
Published in Nature communications (12.10.2018)
Published in Nature communications (12.10.2018)
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Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
Latham, Sharissa L., Ehmke, Nadja, Reinke, Patrick Y. A., Taft, Manuel H., Eicke, Dorothee, Reindl, Theresia, Stenzel, Werner, Lyons, Michael J., Friez, Michael J., Lee, Jennifer A., Hecker, Ramona, Frühwald, Michael C., Becker, Kerstin, Neuhann, Teresa M., Horn, Denise, Schrock, Evelin, Niehaus, Indra, Sarnow, Katharina, Grützmann, Konrad, Gawehn, Luzie, Klink, Barbara, Rump, Andreas, Chaponnier, Christine, Figueiredo, Constanca, Knöfler, Ralf, Manstein, Dietmar J., Di Donato, Nataliya
Published in Nature communications (19.11.2018)
Published in Nature communications (19.11.2018)
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TMOD-10. THE ROLE OF IDH1 R132H MUTATION IN GLIOMA – AN INVESTIGATION BY GENOME-EDITING IN HUMAN INDUCED PLURIPOTENT STEM CELLS
Köpp, Alexander, Gawehn, Luzie, William, Doreen, Preussler, Matthias, Richter, Susan, Heide, Michael, Marrone, Lara, Thieme, Anne, Borgmann, Felix Kleine, Mittelbronn, Michel, Capper, David, Schröck, Evelin, Klink, Barbara
Published in Neuro-oncology (Charlottesville, Va.) (12.11.2021)
Published in Neuro-oncology (Charlottesville, Va.) (12.11.2021)
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Thrombocytopenia Microcephaly Syndrome - a novel phenotype associated with ACTB mutations
Latham, Sharissa L, Ehmke, Nadja, Patrick Ya Reinke, Taft, Manuel H, Lyons, Michael J, Friez, Michael J, Lee, Jennifer A, Hecker, Ramona, Fruehwald, Michael C, Becker, Kerstin, Neuhann, Teresa M, Horn, Denise, Schrock, Evelin, Sarnow, Katharina, Gruetzmann, Konrad, Gawehn, Luzie, Klink, Barbara, Rump, Andreas, Chaponnier, Christine, Knoefler, Ralf, Manstein, Dietmar J, Nataliya Di Donato
Published in bioRxiv (18.04.2018)
Published in bioRxiv (18.04.2018)
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