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Anzahl der Publikationen: 3
Zeitschriftenartikel
Lenz, Dominic; Pahl, Jens; Hauck, Fabian; Alameer, Seham; Balasubramanian, Meena; Baric, Ivo; Boy, Nikolas; Church, Joseph A.; Crushell, Ellen; Dick, Anke; Distelmaier, Felix; Gujar, Jidnyasa; Indolfi, Giuseppe; Lurz, Eberhard; Peters, Bianca; Schwerd, Tobias; Serranti, Daniele; Koelker, Stefan; Klein, Christoph; Hoffmann, Georg F.; Prokisch, Holger; Greil, Johann; Cerwenka, Adelheid; Giese, Thomas und Staufner, Christian
(2021):
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.
In: Journal of Clinical Immunology, Bd. 41, Nr. 8: S. 1781-1793
Staufner, Christian; Peters, Bianca; Wagner, Matias; Alameer, Seham; Baric, Ivo; Broue, Pierre; Bulut, Derya; Church, Joseph A.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dick, Anke; Dikow, Nicola; Dionisi-Vici, Carlo; Distelmaier, Felix; Bozbulut, Neslihan Eksi; Feillet, Francois; Gonzales, Emmanuel; Hadzic, Nedim; Hauck, Fabian; Hegarty, Robert; Hempel, Maja; Herget, Theresia; Klein, Christoph; Konstantopoulou, Vassiliki; Kopajtich, Robert; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Larson-Nath, Catherine; Leibner, Alexander; Lurz, Eberhard; Mayr, Johannes A.; McKiernan, Patrick; Mention, Karine; Moog, Ute; Mungan, Neslihan Onenli; Riedhammer, Korbinian M.; Santer, Rene; Palafoll, Irene Valenzuela; Vockley, Jerry; Westphal, Dominik S.; Wiedemann, Arnaud; Wortmann, Saskia B.; Diwan, Gaurav D.; Russell, Robert B.; Prokisch, Holger; Garbade, Sven F.; Koelker, Stefan; Hoffmann, Georg F. und Lenz, Dominic
(2020):
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
In: Genetics in Medicine, Bd. 22, Nr. 3: S. 610-621
Kremer, Laura S.; Danhauser, Katharina; Herebian, Diran; Ramadza, Danijela Petkovic; Piekutowska-Abramczuk, Dorota; Seibt, Annette; Müller-Felber, Wolfgang; Haack, Tobias B.; Ploski, Rafal; Lohmeier, Klaus; Schneider, Dominik; Klee, Dirk; Rokicki, Dariusz; Mayatepek, Ertan; Strom, Tim M.; Meitinger, Thomas; Klopstock, Thomas; Pronicka, Ewa; Mayr, Johannes A.; Baric, Ivo; Distelmaier, Felix und Prokisch, Holger
(2016):
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
In: American Journal of Human Genetics, Bd. 99, Nr. 4: S. 894-902