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Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 4
Zeitschriftenartikel
Gothe, Florian; Gehrig, Jonathan; Rapp, Christina K.; Knoflach, Katrin; Reu-Hofer, Simone; Langer, Florian; Schramm, Dirk; Ley-Zaporozhan, Julia; Ehl, Stephan; Schwerk, Nicolaus; Faletti, Laura und Griese, Matthias
(2021):
Early-onset, fatal interstitial lung disease in STAT3 gain-of-function patients.
In: Pediatric Pulmonology, Bd. 56, Nr. 12: S. 3934-3941
Koehler, Sebastian; Gargano, Michael; Matentzoglu, Nicolas; Carmody, Leigh C.; Lewis-Smith, David; Vasilevsky, Nicole A.; Danis, Daniel; Balagura, Ganna; Baynam, Gareth; Brower, Amy M.; Callahan, Tiffany J.; Chute, Christopher G.; Est, Johanna L.; Galer, Peter D.; Ganesan, Shiva; Griese, Matthias; Haimel, Matthias; Pazmandi, Julia; Hanauer, Marc; Harris, Nomi L.; Hartnett, Michael J.; Hastreiter, Maximilian; Hauck, Fabian; He, Yongqun; Jeske, Tim; Kearney, Hugh; Kindle, Gerhard; Klein, Christoph; Knoflach, Katrin; Krause, Roland; Lagorce, David; McMurry, Julie A.; Miller, Jillian A.; Munoz-Torres, Monica C.; Peters, Rebecca L.; Rapp, Christina K.; Rath, Ana M.; Rind, Shahmir A.; Rosenberg, Avi Z.; Segal, Michael M.; Seidel, Markus G.; Smedley, Damian; Talmy, Tomer; Thomas, Yarlalu; Wiafe, Samuel A.; Xian, Julie; Yueksel, Zafer; Helbig, Ingo; Mungall, Christopher J.; Haendel, Melissa A. und Robinson, Peter N.
(2021):
The Human Phenotype Ontology in 2021.
In: Nucleic Acids Research, Bd. 49, Nr. D1:
D1207-D1217
Rapp, Christina K.; Dijck, Ine van; Laugwitz, Lucia; Boon, Mieke; Briassoulis, George; Ilia, Stavroula; Kammer, Birgit; Reu, Simone; Hornung, Stefanie; Buchert, Rebecca; Sofan, Linda; Froukh, Tawfiq; Witters, Peter; Rymen, Daisy; Haack, Tobias B.; Proesmans, Marijke und Griese, Matthias
(2021):
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.
In: Clinical Genetics, Bd. 100, Nr. 4: S. 453-461
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