De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis

por Schwaibold, Eva Maria Christina, Bartels, Iris, Küster, Helmut, Lorenz, Michael, Burfeind, Peter, Adam, Ronja, Zoll, Barbara
Publicado 2014

Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset

por Smogavec, Mateja, Zschüntzsch, Jana, Kress, Wolfram, Mohr, Julia, Hellen, Peter, Zoll, Barbara, Pauli, Silke, Schmidt, Jens
Publicado 2017

Intragenic duplication of EHMT1 gene results in Kleefstra syndrome

por Schwaibold, Eva Maria Christina, Smogavec, Mateja, Hobbiebrunken, Elke, Winter, Lorenz, Zoll, Barbara, Burfeind, Peter, Brockmann, Knut, Pauli, Silke
Publicado 2014

Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation

por Auber, Bernd, Bruemmer, Verena, Zoll, Barbara, Burfeind, Peter, Boehm, Detlef, Liehr, Thomas, Brockmann, Knut, Wilichowski, Ekkehard, Argyriou, Loukas, Bartels, Iris
Publicado 2009

Genomic information and a person’s right not to know: A closer look at variations in hypothetical informational preferences in a German sample

por Flatau, Laura, Reitt, Markus, Duttge, Gunnar, Lenk, Christian, Zoll, Barbara, Poser, Wolfgang, Weber, Alexandra, Heilbronner, Urs, Rietschel, Marcella, Strohmaier, Jana, Kesberg, Rebekka, Nagel, Jonas, Schulze, Thomas G.
Publicado 2018

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations

por Rath, Matthias, Spiegler, Stefanie, Nath, Neetika, Schwefel, Konrad, Di Donato, Nataliya, Gerber, Johannes, Korenke, G. Christoph, Hellenbroich, Yorck, Hehr, Ute, Gross, Stephanie, Sure, Ulrich, Zoll, Barbara, Gilberg, Eberhard, Kaderali, Lars, Felbor, Ute
Publicado 2016

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors

por Spiegler, Stefanie, Najm, Juliane, Liu, Jian, Gkalympoudis, Stephanie, Schröder, Winnie, Borck, Guntram, Brockmann, Knut, Elbracht, Miriam, Fauth, Christine, Ferbert, Andreas, Freudenberg, Leonie, Grasshoff, Ute, Hellenbroich, Yorck, Henn, Wolfram, Hoffjan, Sabine, Hüning, Irina, Korenke, G Christoph, Kroisel, Peter M, Kunstmann, Erdmute, Mair, Martina, Munk-Schulenburg, Susanne, Nikoubashman, Omid, Pauli, Silke, Rudnik-Schöneborn, Sabine, Sudholt, Irene, Sure, Ulrich, Tinschert, Sigrid, Wiednig, Michaela, Zoll, Barbara, Ginsberg, Mark H, Felbor, Ute
Publicado 2014