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Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype.
Volker-Touw CM, de Koning HD, Giltay JC, de Kovel CG, van Kempen TS, Oberndorff KM, Boes ML, van Steensel MA, van Well GT, Blokx WA, Schalkwijk J, Simon A, Frenkel J, van Gijn ME. Volker-Touw CM, et al. Among authors: oberndorff km. Br J Dermatol. 2017 Jan;176(1):244-248. doi: 10.1111/bjd.14757. Epub 2016 Dec 8. Br J Dermatol. 2017. PMID: 27203668 No abstract available.
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
Lee JR, Srour M, Kim D, Hamdan FF, Lim SH, Brunel-Guitton C, Décarie JC, Rossignol E, Mitchell GA, Schreiber A, Moran R, Van Haren K, Richardson R, Nicolai J, Oberndorff KM, Wagner JD, Boycott KM, Rahikkala E, Junna N, Tyynismaa H, Cuppen I, Verbeek NE, Stumpel CT, Willemsen MA, de Munnik SA, Rouleau GA, Kim E, Kamsteeg EJ, Kleefstra T, Michaud JL. Lee JR, et al. Among authors: oberndorff km. Hum Mutat. 2015 Jan;36(1):69-78. doi: 10.1002/humu.22709. Epub 2014 Nov 27. Hum Mutat. 2015. PMID: 25265257
[A girl with a painful red skin].
Bakker ME, Oberndorff KM. Bakker ME, et al. Among authors: oberndorff km. Ned Tijdschr Geneeskd. 2013;157(5):A5310. Ned Tijdschr Geneeskd. 2013. PMID: 23369814 Dutch.
Disseminated aspergillosis in a premature neonate.
Meessen NE, Oberndorff KM, Jacobs JA. Meessen NE, et al. Among authors: oberndorff km. J Hosp Infect. 1998 Nov;40(3):249-50. doi: 10.1016/s0195-6701(98)90143-8. J Hosp Infect. 1998. PMID: 9830596 No abstract available.