Search Results - Netzer, Christian

An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic hom... by Bolte, Angelika (Author) , Velmans, Clara (Author) , Netzer, Christian (Author) , Thimm, Eva (Author) , Tuncel, Ali Tunç (Author) , Bürger, Friederike (Author) , Hiersche, Milan (Author) , Betz, Christian (Author) , Bolz, Hanno (Author) ,

• Verlag, kostenfrei, Volltext

Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses by Erger, Florian (Author) , Burau, Karin (Author) , Elsässer, Michael (Author) , Zimmermann, Katharina (Author) , Moog, Ute (Author) , Netzer, Christian (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed sotos syndrome? by Dikow, Nicola (Author) , Maas, Bianca (Author) , Gaspar, Harald (Author) , Kreiss‐Nachtsheim, Martina (Author) , Engels, Hartmut (Author) , Kuechler, Alma (Author) , Garbes, Lutz (Author) , Netzer, Christian (Author) , Neuhann, Teresa M. (Author) , Koehler, Udo (Author) , Casteels, Kristina (Author) , Devriendt, Koen (Author) , Janssen, Johannes W. G. (Author) , Jauch, Anna (Author) , Hinderhofer, Katrin (Author) , Moog, Ute (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext