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Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype.
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.
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development.
Platzer K, Cogné B, Hague J, Marcelis CL, Mitter D, Oberndorff K, Park SM, Ploos van Amstel HK, Simonic I, van der Smagt JJ, Stegmann APA, Stevens SJC, Stumpel CTRM, Vincent M, Lemke JR, Jamra R.
Platzer K, et al.
Ann Neurol. 2018 Aug;84(2):200-207. doi: 10.1002/ana.25278. Epub 2018 Aug 31.
Ann Neurol. 2018.
PMID: 30014507
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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
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[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.
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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.
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