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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 4
2021
Schuch, Luise A.; Forstner, Maria; Rapp, Christina K.; Li, Yang; Smith, Desiree E. C.; Mendes, Marisa I.; Delhommel, Florent; Sattler, Michael; Emiralioglu, Nagehan; Taskiran, Ekim Z.; Orhan, Diclehan; Kiper, Nural; Rohlfs, Meino; Jeske, Tim; Hastreiter, Maximilian; Gerstlauer, Michael; Torrent-Vernetta, Alba; Moreno-Galdo, Antonio; Kammer, Birgit; Brasch, Frank; Reu-Hofer, Simone und Griese, Matthias
(2021):
FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!
In: Clinical Genetics, Bd. 99, Nr. 6: S. 789-801
Vavassori, Stefano; Chou, Janet; Faletti, Laura Eva; Haunerdinger, Veronika; Opitz, Lennart; Joset, Pascal; Fraser, Christopher J.; Prader, Seraina; Gao, Xianfei; Schuch, Luise A.; Wagner, Matias; Hoefele, Julia; Maccari, Maria Elena; Zhu, Ying; Elakis, George; Gabbett, Michael T.; Forstner, Maria; Omran, Heymut; Kaiser, Thomas; Kessler, Christina; Olbrich, Heike; Frosk, Patrick; Almutairi, Abduarahman; Platt, Craig D.; Elkins, Megan; Weeks, Sabrina; Rubin, Tamar; Planas, Raquel; Marchetti, Tommaso; Koovely, Danil; Klambt, Verena; Soliman, Neveen A.; Hardenberg, Sandra von; Klemann, Christian; Baumann, Ulrich; Lenz, Dominic; Klein-Franke, Andreas; Schwemmle, Martin; Huber, Michael; Sturm, Ekkehard; Hartleif, Steffen; Haffner, Karsten; Gimpel, Charlotte; Brotschi, Barbara; Laube, Guido; Gungor, Tayfun; Buckley, Michael F.; Kottke, Raimund; Staufner, Christian; Hildebrandt, Friedhelm; Reu-Hofer, Simone; Moll, Solange; Weber, Achim; Kaur, Hundeep; Ehl, Stephan; Hiller, Sebastian; Geha, Raif; Roscioli, Tony; Griese, Matthias und Schmid, Jana Pachlopnik
(2021):
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
In: Journal of Allergy and Clinical Immunology, Bd. 148, Nr. 2: S. 381-393
2018
Hengst, Meike; Naehrlich, Lutz; Mahavadi, Poornima; Grosse-Onnebrink, Jörg; Terheggen-Lagro, Suzanne; Skanke, Lars Hosoien; Schuch, Luise A.; Brasch, Frank; Günther, Andreas; Reu, Simone; Ley-Zaporozhan, Julia und Griese, Matthias
(2018):
Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.
In: Orphanet Journal of Rare Diseases
13:42
[PDF, 2MB]
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