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Anzahl der Publikationen: 2
Zeitschriftenartikel
Ouahed, Jodie; Kelsen, Judith R.; Spessott, Waldo A.; Kooshesh, Kameron; Sanmillan, Maria L.; Dawany, Noor; Sullivan, Kathleen E.; Hamilton, Kathryn E.; Slowik, Voytek; Nejentsev, Sergey; Neves, Joao Farela; Flores, Helena; Chung, Wendy K.; Wilson, Ashley; Anyane-Yeboa, Kwame; Wou, Karen; Jain, Preti; Field, Michael; Tollefson, Sophia; Dent, Maiah H.; Li, Dalin; Naito, Takeo; McGovern, Dermot P. B.; Kwong, Andrew C.; Taliaferro, Faith; Ordovas-Montanes, Jose; Horwitz, Bruce H.; Kotlarz, Daniel; Klein, Christoph; Evans, Jonathan; Dorsey, Jill; Warner, Neil; Elkadri, Abdul; Muise, Aleixo M.; Goldsmith, Jeffrey; Thompson, Benjamin; Engelhardt, Karin R.; Cant, Andrew J.; Hambleton, Sophie; Barclay, Andrew; Toth-Petroczy, Agnes; Vuzman, Dana; Carmichael, Nikkola; Bodea, Corneliu; Cassa, Christopher A.; Devoto, Marcella; Maas, Richard L.; Behrens, Edward M.; Giraudo, Claudio G. und Snapper, Scott B.
(2021):
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
In: Journal of Crohns & Colitis, Bd. 15, Nr. 11: S. 1908-1919
Lorenzini, Tiziana; Fliegauf, Manfred; Klammer, Nils; Frede, Natalie; Proietti, Michele; Bulashevska, Alla; Camacho-Ordonez, Nadezhda; Varjosalo, Markku; Kinnunen, Matias; Vries, Esther de; Meer, Jos W. M. van der; Ameratunga, Rohan; Roifman, Chaim M.; Schejter, Yael D.; Kobbe, Robin; Hautala, Timo; Atschekzei, Faranaz; Schmidt, Reinhold E.; Schroeder, Claudia; Stepensky, Polina; Shadur, Bella; Pedroza, Luis A.; Flier, Michiel van der; Martinez-Gallo, Monica; Ignacio Gonzalez-Granado, Luis; Allende, Luis M.; Shcherbina, Anna; Kuzmenko, Natalia; Zakharova, Victoria; Neves, Joao Farela; Svec, Peter; Fischer, Ute; Ip, Winnie; Bartsch, Oliver; Baris, Safa; Klein, Christoph; Geha, Raif; Chou, Janet; Alosaimi, Mohammed; Weintraub, Lauren; Boztug, Kaan; Hirschmugl, Tatjana; Dos Santos Vilela, Maria Marluce; Holzinger, Dirk; Seidl, Maximilian; Lougaris, Vassilios; Plebani, Alessandro; Alsina, Laia; Piquer-Gibert, Monica; Deya-Martinez, Angela; Slade, Charlotte A.; Aghamohammadi, Asghar; Abolhassani, Hassan; Hammarstrom, Lennart; Kuismin, Outi; Helminen, Merja; Allen, Hana Lango; Thaventhiran, James E.; Freeman, Alexandra F.; Cook, Matthew; Bakhtiar, Shahrzad; Christiansen, Mette; Cunningham-Rundles, Charlotte; Patel, Niraj C.; Rae, William; Niehues, Tim; Brauer, Nina; Syrjanen, Jaana; Seppanen, Mikko R. J.; Burns, Siobhan O.; Tuijnenburg, Paul; Kuijpers, Taco W.; Warnatz, Klaus und Grimbacher, Bodo
(2020):
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
In: Journal of Allergy and Clinical Immunology, Bd. 146, Nr. 4: S. 901-911