Chromosomal Aneuploidies and Early Embryonic Developmental Arrest

by Maria Maurer, Thomas Ebner, Manuela Puchner, Richard Bernhard Mayer, Omar Shebl, Peter Oppelt, Hans-Christoph Duba
Published 2015-10-01

Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulm...

by Katarína Kušíková, René Günther Feichtinger, Bernhard Csillag, Ognian Kostadinov Kalev, Serge Weis, Hans-Christoph Duba, Johannes Adalbert Mayr, Denisa Weis
Published 2021-04-01

A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta

by Ahmed El-Gazzar, Johannes A. Mayr, Barbara Voraberger, Karin Brugger, Stéphane Blouin, Katharina Tischlinger, Hans-Christoph Duba, Holger Prokisch, Nadja Fratzl-Zelman, Wolfgang Högler
Published 2021-12-01

Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations

by Denise Aldrian, Georg F. Vogel, Teresa K. Frey, Hasret Ayyıldız Civan, Aysel Ünlüsoy Aksu, Yaron Avitzur, Ester Boluda Ramos, Murat Çakır, Arzu Meltem Demir, Caroline Deppisch, Hans-Christoph Duba, Gesche Düker, Patrick Gerner, Jozef Hertecant, Jarmila Hornová, Simone Kathemann, Jutta Koeglmeier, Arsinoi Koutroumpa, Roland Lanzersdorfer, Raffi Lev-Tzion, Rosa Lima, Sahar Mansour, Manfred Meissl, Jan Melek, Mohamad Miqdady, Jorge Hernan Montoya, Carsten Posovszky, Yelena Rachman, Tania Siahanidou, Merit Tabbers, Holm H. Uhlig, Sevim Ünal, Stefan Wirth, Frank M. Ruemmele, Michael W. Hess, Lukas A. Huber, Thomas Müller, Ekkehard Sturm, Andreas R. Janecke
Published 2021-01-01