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Anzahl der Publikationen: 2
Zeitschriftenartikel
Xu, Zhiwen; Lo, Wing-Sze; Beck, David B.; Schuch, Luise A.; Olahova, Monika; Kopajtich, Robert; Chong, Yeeting E.; Alston, Charlotte L.; Seidl, Elias; Zhai, Liting; Lau, Ching-Fun; Timchak, Donna; LeDuc, Charles A.; Borczuk, Alain C.; Teich, Andrew F.; Juusola, Jane; Sofeso, Christina; Müller, Christoph; Pierre, Germaine; Hilliard, Tom; Turnpenny, Peter D.; Wagner, Matias; Kappler, Matthias; Brasch, Frank; Bouffard, John Paul; Nangle, Leslie A.; Yang, Xiang-Lei; Zhang, Mingjie; Taylor, Robert W.; Prokisch, Holger; Griese, Matthias; Chung, Wendy K. und Schimmel, Paul
(2018):
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.
In: American Journal of Human Genetics, Bd. 103, Nr. 1: S. 100-114
Rubio Cabezas, Oscar; Flanagan, Sarah E.; Stanescu, Horia; Garcia-Martinez, Elena; Caswell, Richard; Lango-Allen, Hana; Anton-Gamero, Montserrat; Argente, Jesus; Busse, Anna-Marie; Brandli, Andre; Cheshire, Chris; Crowne, Elizabeth; Dumitriu, Simona; Drynda, Robert; Hamilton-Shield, Julian P.; Hayes, Wesley; Hofherr, Alexis; Iancu, Daniela; Issler, Naomi; Jefferies, Craig; Jones, Peter; Johnson, Matthew; Kesselheim, Anne; Klootwijk, Enriko; Koettgen, Michael; Lewis, Wendy; Maria Martos, Jose; Mozere, Monika; Norman, Jill; Patel, Vaksha; Parrish, Andrew; Perez-Cerda, Celia; Pozo, Jesus; Rahman, Sofia A.; Sebire, Neil; Tekman, Mehmet; Turnpenny, Peter D.; Hoff, William van't; Viering, Daan H. H. M.; Weedon, Michael N.; Wilson, Patricia; Guay-Woodford, Lisa; Kleta, Robert; Hussain, Khalid; Ellard, Sian und Bockenhauer, Detlef
(2017):
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
In: Journal of the American Society of Nephrology, Bd. 28, Nr. 8: S. 2529-2539