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)

by Solveig Schulz, Marianne Volleth, Petra Muschke, Ilse Wieland, Peter Wieacker
Published 2008-11-01

Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy

by Kushtrim Disha, Solveig Schulz, Martin Breuer, Tamer Owais, Evaldas Girdauskas, Thomas Kuntze
Published 2019-10-01

Mutational Spectrum of the <i>ABCA12</i> Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

by Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Kira Süßmuth, Katalin Komlosi, Bakar Bouadjar, Iliana Tantcheva-Poór, Maritta Hellström Pigg, Regina C. Betz, Kathrin Giehl, Fiona Schedel, Lisa Weibel, Solveig Schulz, Dora V. Stölzl, Gianluca Tadini, Emine Demiral, Karin Berggard, Andreas D. Zimmer, Svenja Alter, Judith Fischer
Published 2023-03-01