Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7)

Por Schulz, Solveig, Volleth, Marianne, Muschke, Petra, Wieland, Ilse, Wieacker, Peter
Publicado em 2008

Disturbed Neuronal ER-Golgi Sorting of Unassembled Glycine Receptors Suggests Altered Subcellular Processing Is a Cause of Human Hyperekplexia

Por Schaefer, Natascha, Kluck, Christoph J., Price, Kerry L., Meiselbach, Heike, Vornberger, Nadine, Schwarzinger, Stephan, Hartmann, Stephanie, Langlhofer, Georg, Schulz, Solveig, Schlegel, Nadja, Brockmann, Knut, Lynch, Bryan, Becker, Cord-Michael, Lummis, Sarah C.R., Villmann, Carmen
Publicado no J Neurosci (2015)

Next-generation sequencing in X-linked intellectual disability

Por Tzschach, Andreas, Grasshoff, Ute, Beck-Woedl, Stefanie, Dufke, Claudia, Bauer, Claudia, Kehrer, Martin, Evers, Christina, Moog, Ute, Oehl-Jaschkowitz, Barbara, Di Donato, Nataliya, Maiwald, Robert, Jung, Christine, Kuechler, Alma, Schulz, Solveig, Meinecke, Peter, Spranger, Stephanie, Kohlhase, Jürgen, Seidel, Jörg, Reif, Silke, Rieger, Manuela, Riess, Angelika, Sturm, Marc, Bickmann, Julia, Schroeder, Christopher, Dufke, Andreas, Riess, Olaf, Bauer, Peter
Publicado no Eur J Hum Genet (2015)