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Anzahl der Publikationen: 3
Zeitschriftenartikel
Pelham, Simon J.; Caldirola, Maria Soledad; Avery, Danielle T.; Mackie, Joseph; Rao, Geetha; Gothe, Florian; Peters, Timothy J.; Guerin, Antoine; Neumann, David; Vokurkova, Doris; Hwa, Vivian; Zhang, Wenming; Lyu, Shu-Chen; Chang, Iris; Manohar, Monali; Nadeau, Kari C.; Gaillard, Maria Isabel; Bezrodnik, Liliana; Iotova, Violeta; Zwirner, Norberto Walter; Gutierrez, Mavel; Al-Herz, Waleed; Goodnow, Christopher C.; Vargas-Hernandez, Alexander; Satter, Lisa R. Forbes; Hambleton, Sophie; Deenick, Elissa K.; Ma, Cindy S. und Tangye, Stuart G.
(2022):
STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis.
In: Journal of Allergy and Clinical Immunology, Bd. 150, Nr. 4: S. 931-946
Cottrell, Emily; Maharaj, Avinaash; Williams, Jack; Chatterjee, Sumana; Cirillo, Grazia; del Giudice, Emanuele Miraglia; Festa, Adalgisa; Palumbo, Stefania; Capalbo, Donatella; Salerno, Mariacarolina; Pignata, Claudio; Savage, Martin O.; Schilbach, Katharina; Bidlingmaier, Martin; Hwa, Vivian; Metherell, Louise A.; Grandone, Anna und Storr, Helen L.
(2022):
Growth Hormone Receptor (GHR) 6 Omega Pseudoexon Activation: A Novel Cause of Severe Growth Hormone Insensitivity.
In: Journal of Clinical Endocrinology & Metabolism, Bd. 107, Nr. 1, E401-E416
Diets, Illja J.; van der Donk, Roos; Baltrunaite, Kristina; Waanders, Esme; Reijnders, Margot R. F.; Dingemans, Alexander J. M.; Pfundt, Rolph; Vulto-van Silfhout, Anneke T.; Wiel, Laurens; Gilissen, Christian; Thevenon, Julien; Perrin, Laurence; Afenjar, Alexandra; Nava, Caroline; Keren, Boris; Bartz, Sarah; Peri, Bethany; Beunders, Gea; Verbeek, Nienke; van Gassen, Koen; Thiffault, Isabelle; Cadieux-Dion, Maxime; Huerta-Saenz, Lina; Wagner, Matias; Konstantopoulou, Vassiliki; Vodopiutz, Julia; Griese, Matthias; Boel, Annekatrien; Callewaert, Bert; Brunner, Han G.; Kleefstra, Tjitske; Hoogerbrugge, Nicoline; de Vries, Bert B. A.; Hwa, Vivian; Dauber, Andrew; Hehir-Kwa, Jayne Y.; Kuiper, Roland P. und Jongmans, Marjolijn C. J.
(2019):
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
In: American Journal of Human Genetics, Bd. 104, Nr. 4: S. 758-766