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Author/Creator Beedgen, Lars

2. Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine‐rich N‐terminus. Issue 7 (8th May 2019)

Authors:
Himmelreich, Nastassja; Dimitrov, Bianca; Geiger, Virginia; Zielonka, Matthias; Hutter, Anna‐Marlen; Beedgen, Lars; Hüllen, Andreas; Breuer, Maximilian; Peters, Verena; Thiemann, Kai‐Christian; Hoffmann, Georg F.; Sinning, Irmgard; Dupré, Thierry; Vuillaumier‐Barrot, Sandrine; Barrey, Catherine; ...
Journal:
Human mutation
Issue:
Volume 40:Issue 7(2019)
Page Start:
938
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria. Issue 5 (28th June 2021)

Authors:
Brennenstuhl, Heiko; Nashawi, Mohammed; Schröter, Julian; Baronio, Federico; Beedgen, Lars; Gleich, Florian; Jeltsch, Kathrin; von Landenberg, Christina; Martini, Silvia; Simon, Anna; Thiel, Christian; Tsiakas, Konstantinos; Opladen, Thomas; Kölker, Stefan; Hoffmann, Georg F.; Haas, Dorothea
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 5(2021)
Page Start:
1272
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗