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Compound heterozygous variants in OTULIN are associated with fulminant atypical late-onset ORAS.
Zinngrebe J, Moepps B, Monecke T, Gierschik P, Schlichtig F, Barth TFE, Strauß G, Boldrin E, Posovszky C, Schulz A, Beringer O, Rieser E, Jacobsen EM, Lorenz MR, Schwarz K, Pannicke U, Walczak H, Niessing D, Schuetz C, Fischer-Posovszky P, Debatin KM. Zinngrebe J, et al. Among authors: pannicke u. EMBO Mol Med. 2022 Mar 7;14(3):e14901. doi: 10.15252/emmm.202114901. Epub 2022 Feb 16. EMBO Mol Med. 2022. PMID: 35170849 Free PMC article.
Human severe combined immune deficiency and DNA repair.
Schwarz K, Ma Y, Pannicke U, Lieber MR. Schwarz K, et al. Among authors: pannicke u. Bioessays. 2003 Nov;25(11):1061-70. doi: 10.1002/bies.10344. Bioessays. 2003. PMID: 14579247 Review.
Omenn syndrome due to ARTEMIS mutations.
Ege M, Ma Y, Manfras B, Kalwak K, Lu H, Lieber MR, Schwarz K, Pannicke U. Ege M, et al. Among authors: pannicke u. Blood. 2005 Jun 1;105(11):4179-86. doi: 10.1182/blood-2004-12-4861. Epub 2005 Feb 24. Blood. 2005. PMID: 15731174 Free article.
Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications.
Hönig M, Albert MH, Schulz A, Sparber-Sauer M, Schütz C, Belohradsky B, Güngör T, Rojewski MT, Bode H, Pannicke U, Lippold D, Schwarz K, Debatin KM, Hershfield MS, Friedrich W. Hönig M, et al. Among authors: pannicke u. Blood. 2007 Apr 15;109(8):3595-602. doi: 10.1182/blood-2006-07-034678. Epub 2006 Dec 21. Blood. 2007. PMID: 17185467 Free article.
60 results