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2017
Huppke, Peter, Weissbach, Susann, Church, Joseph A., Schnur, Rhonda, Krusen, Martina, Dreha-Kulaczewski, Steffi, Kuehn-Velten, W. Nikolaus, Wolf, Annika, Huppke, Brenda, Millan, Francisca, Begtrup, Amber, Almusafri, Fatima, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Mueller, Michael and Gaertner, Jutta (2017). Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. Nat. Commun., 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2041-1723
Weissbach, Susann, Reinert, Marie-Christine, Altmueller, Janine, Kraetzner, Ralph, Thiele, Holger, Rosenbaum, Thorsten, Nuernberg, Peter and Gaertner, Jutta (2017). A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. Am. J. Med. Genet. A, 173 (10). S. 2803 - 2808. HOBOKEN: WILEY. ISSN 1552-4833