Säugling mit beidseitiger Hornhauttrübung und Aniridie

por Wagner, Helena, Matysiak, Uta, Lagrèze, Wolf A.
Publicado 2020

A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome

por Schüle, Isabel, Berger, Urs, Matysiak, Uta, Ruzaike, Gunda, Stiller, Brigitte, Pohl, Martin, Spiekerkoetter, Ute, Lausch, Ekkehart, Grünert, Sarah C., Schmidts, Miriam
Publicado 2021

Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment

por Grünert, Sarah C., Matysiak, Uta, Hodde, Franka, Ruzaike, Gunda, Lausch, Ekkehart, Schumann, Anke, van der Werf-Grohmann, Natascha, Spiekerkoetter, Ute, Schmidts, Miriam
Publicado 2021

Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patients

por Menzel, Michael, Ossowski, Stephan, Kral, Sebastian, Metzger, Patrick, Horak, Peter, Marienfeld, Ralf, Boerries, Melanie, Wolter, Steffen, Ball, Markus, Neumann, Olaf, Armeanu-Ebinger, Sorin, Schroeder, Christopher, Matysiak, Uta, Goldschmid, Hannah, Schipperges, Vincent, Fürstberger, Axel, Allgäuer, Michael, Eberhardt, Timo, Niewöhner, Jakob, Blaumeiser, Andreas, Ploeger, Carolin, Haack, Tobias Bernd, Tay, Timothy Kwang Yong, Kelemen, Olga, Pauli, Thomas, Kirchner, Martina, Kluck, Klaus, Ott, Alexander, Renner, Marcus, Admard, Jakob, Gschwind, Axel, Lassmann, Silke, Kestler, Hans, Fend, Falko, Illert, Anna Lena, Werner, Martin, Möller, Peter, Seufferlein, Thomas Theodor Werner, Malek, Nisar, Schirmacher, Peter, Fröhling, Stefan, Kazdal, Daniel, Budczies, Jan, Stenzinger, Albrecht
Publicado 2023