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Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church JA, Crushell E, Dalgıç B, Das AM, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut NE, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass MW, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr JA, McKiernan P, Mention K, Moog U, Mungan NO, Riedhammer KM, Santer R, Palafoll IV, Vockley J, Westphal DS, Wiedemann A, Wortmann SB, Diwan GD, Russell RB, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Lenz D. Staufner C, et al. Among authors: laass mw. Genet Med. 2020 Mar;22(3):610-621. doi: 10.1038/s41436-019-0698-4. Epub 2019 Nov 25. Genet Med. 2020. PMID: 31761904 Free article.
Hyper-IgE and Carcinoma in CADINS Disease.
Pietzsch L, Körholz J, Boschann F, Sergon M, Dorjbal B, Yee D, Gilly V, Kämmerer E, Paul D, Kastl C, Laass MW, Berner R, Jacobsen EM, Roesler J, Aust D, Lee-Kirsch MA, Snow AL, Schuetz C. Pietzsch L, et al. Among authors: laass mw. Front Immunol. 2022 May 16;13:878989. doi: 10.3389/fimmu.2022.878989. eCollection 2022. Front Immunol. 2022. PMID: 35651609 Free PMC article.
Novel mutation and expanding phenotype in IRF2BP2 deficiency.
Körholz J, Gabrielyan A, Sczakiel HL, Schulze L, Rejzek M, Laass MW, Leuchten N, Tiebel O, Aust D, Conrad K, Röber N, Jacobsen EM, Ehmke N, Berner R, Lucas N, Lee-Kirsch MA, Wiedemuth R, Roesler J, Roers A, Amendt T, Schuetz C. Körholz J, et al. Among authors: laass mw. Rheumatology (Oxford). 2023 Apr 3;62(4):1699-1705. doi: 10.1093/rheumatology/keac575. Rheumatology (Oxford). 2023. PMID: 36193988
93 results