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Authors: Jaksch, M Horvath, R Horn, N Auer, DP Macmillan, C Peters, J Gerbitz, KD Kraegeloh-Mann, I Muntau, A Karcagi, V Kalmanchey, R Lochmuller, H Shoubridge, EA Freisinger, P
Citation: M. Jaksch et al., Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy, NEUROLOGY, 57(8), 2001, pp. 1440-1446

Authors: Schuler, A Kalmanchey, R Barsi, P Somogyi, CS Toros, I Varadi, I Kovacs, A Blau, N
Citation: A. Schuler et al., Deprenyl in the treatment of patients with tetrahydrobiopterin deficiencies, J INH MET D, 23(4), 2000, pp. 329-332

Authors: Crow, YJ Jackson, AP Roberts, E van Beusekom, E Barth, P Corry, P Ferrie, CD Hamel, BCJ Jayatunga, R Karbani, G Kalmanchey, R Kelemen, A King, M Kumar, R Livingstone, J Massey, R McWilliam, R Meager, A Rittey, C Stephenson, JBP Tolmie, JL Verrips, A Voit, T van Bokhoven, H Brunner, HG Woods, CG
Citation: Yj. Crow et al., Aicardi-Goutieres syndrome display genetic heterogeneity with one locus (AGS1) on chromosome 3p21, AM J HU GEN, 67(1), 2000, pp. 213-221
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