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Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.
Nat Genet. 2009 Jan;41(1):101-5. doi: 10.1038/ng.265. Epub 2008 Nov 30.
Nat Genet. 2009.
PMID: 19043417
The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events.
Pannicke U, Hönig M, Schulze I, Rohr J, Heinz GA, Braun S, Janz I, Rump EM, Seidel MG, Matthes-Martin S, Soerensen J, Greil J, Stachel DK, Belohradsky BH, Albert MH, Schulz A, Ehl S, Friedrich W, Schwarz K.
Pannicke U, et al. Among authors: rump em.
Hum Mutat. 2010 Feb;31(2):197-207. doi: 10.1002/humu.21168.
Hum Mutat. 2010.
PMID: 19953608
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Deficiency of innate and acquired immunity caused by an IKBKB mutation.
Pannicke U, Baumann B, Fuchs S, Henneke P, Rensing-Ehl A, Rizzi M, Janda A, Hese K, Schlesier M, Holzmann K, Borte S, Laux C, Rump EM, Rosenberg A, Zelinski T, Schrezenmeier H, Wirth T, Ehl S, Schroeder ML, Schwarz K.
Pannicke U, et al. Among authors: rump em.
N Engl J Med. 2013 Dec 26;369(26):2504-14. doi: 10.1056/NEJMoa1309199.
N Engl J Med. 2013.
PMID: 24369075
Free article.
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Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease.
Cario H, Smith DE, Blom H, Blau N, Bode H, Holzmann K, Pannicke U, Hopfner KP, Rump EM, Ayric Z, Kohne E, Debatin KM, Smulders Y, Schwarz K.
Cario H, et al. Among authors: rump em.
Am J Hum Genet. 2011 Feb 11;88(2):226-31. doi: 10.1016/j.ajhg.2011.01.007.
Am J Hum Genet. 2011.
PMID: 21310277
Free PMC article.
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Attempts to mimic docking processes of the immune system: recognition-induced formation of protein multilayers.
Müller W, Ringsdorf H, Rump E, Wildburg G, Zhang X, Angermaier L, Knoll W, Liley M, Spinke J.
Müller W, et al.
Science. 1993 Dec 10;262(5140):1706-8. doi: 10.1126/science.8259513.
Science. 1993.
PMID: 8259513
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Formation of protein multilayers and their competitive replacement based on self-assembled biotinylated phospholipids.
Müller W, Ringsdorf H, Rump E, Zhang X, Angermaier L, Knoll W, Spinke J.
Müller W, et al.
J Biomater Sci Polym Ed. 1994;6(5):481-95. doi: 10.1163/156856294x00455.
J Biomater Sci Polym Ed. 1994.
PMID: 7841153
Review.
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Supramolecular assembly using helical peptides.
Fujita K, Kimura S, Imanishi Y, Rump E, Ringsdorf H.
Fujita K, et al.
Adv Biophys. 1997;34:127-37. doi: 10.1016/s0065-227x(97)89636-0.
Adv Biophys. 1997.
PMID: 9204131
Review.
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