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American Journal of Human Genetics|August 18, 2015
Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable ImmunodeficiencyManfred Fliegauf, Vanessa L Bryant, Natalie Frede, et al.
Blood|July 3, 2009
Mutations in CBL occur frequently in juvenile myelomonocytic leukemiaMignon L Loh, Debbie S Sakai, Christian Flotho, et al.
Human Molecular Genetics|October 18, 2015
DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiencyTimo Volk, Ulrich Pannicke, Ismail Reisli, et al.
American Journal of Human Genetics|March 29, 2008
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasiaCarsten Bergmann, Manfred Fliegauf, Nadina Ortiz Brüchle, et al.
The Journal of Allergy and Clinical Immunology|August 8, 2017
Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1)Desirée Schubert, Marie-Christine Klein, Sarah Hassdenteufel, et al.
Frontiers in Immunology|September 15, 2022
Detrimental <i>NFKB1</i> missense variants affecting the Rel-homology domain of p105/p50Manfred Fliegauf, Matias Kinnunen, Sara Posadas-Cantera, et al.
Science Immunology|June 17, 2018
ZNF341 controls STAT3 expression and thereby immunocompetenceStefanie Frey-Jakobs, Julia M Hartberger, Manfred Fliegauf, et al.
Cell|January 14, 2017
DNA Damage Signaling Instructs Polyploid Macrophage Fate in GranulomasLaura Herrtwich, Indrajit Nanda, Konstantinos Evangelou, et al.
The Journal of Experimental Medicine|September 2, 2021
Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiencyJuan Li, Wei-Te Lei, Peng Zhang, et al.
Nature Genetics|December 7, 2010
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogsAnne-Christine Merveille, Erica E Davis, Anita Becker-Heck, et al.
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