Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and rev...

by Karim Elhennawy, Seif Reda, Christian Finke, Luitgard Graul-Neumann, Paul-Georg Jost-Brinkmann, Theodosia Bartzela
Published 2017-08-01

Understanding the Pathophysiology and Searching for Biomarkers for Rare Genetic Developmental Diseases

by Laura Castilla-Vallmanya, Roser Urreizti, Héctor Franco, Jeanne Amiel, Tiong Y. Tan, Luitgard Graul Neumann, Christopher T. Gordon, Daniel Grinberg
Published 2019-08-01

Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction

by Sandra Chantot-Bastaraud, Svea Stratmann, Frédéric Brioude, Matthias Begemann, Miriam Elbracht, Luitgard Graul-Neumann, Madeleine Harbison, Irène Netchine, Thomas Eggermann
Published 2017-07-01