Clinical Research in Vulnerable Populations: Variability and Focus of Institutional Review Boards’ Responses

by Kästner, Bärbel, Behre, Simone, Lutz, Nadine, Bürger, Friederike, Luntz, Steffen, Hinderhofer, Katrin, Bendszus, Martin, Hoffmann, Georg F., Ries, Markus
Published 2015

Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with m...

by Mütze, Ulrike, Bürger, Friederike, Hoffmann, Jessica, Tegetmeyer, Helmut, Heichel, Jens, Nickel, Petra, Lemke, Johannes R, Syrbe, Steffen, Beblo, Skadi
Published 2016

Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort

by Kehrer, Christiane, Groeschel, Samuel, Kustermann-Kuhn, Birgit, Bürger, Friederike, Köhler, Wolfgang, Kohlschütter, Alfried, Bley, Annette, Steinfeld, Robert, Gieselmann, Volkmar, Krägeloh-Mann, Ingeborg
Published 2014

A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-i...

by Stockklausner, Clemens, Raffel, Simon, Klermund, Julia, Bandapalli, Obul Reddy, Beier, Fabian, Brümmendorf, Tim H., Bürger, Friederike, Sauer, Sven W., Hoffmann, Georg F., Lorenz, Holger, Tagliaferri, Laura, Nowak, Daniel, Hofmann, Wolf-Karsten, Buergermeister, Rebecca, Kerber, Carolin, Rausch, Tobias, Korbel, Jan O., Luke, Brian, Trumpp, Andreas, Kulozik, Andreas E.
Published 2015