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Results: 1-7 |
Results: 7

Authors: Mandel, H Szargel, R Labay, V Elpeleg, O Saada, A Shalata, A Anbinder, Y Berkowitz, D Hartman, C Barak, M Eriksson, S Cohen, N
Citation: H. Mandel et al., The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA (vol 29, pg 337, 2001), NAT GENET, 29(4), 2001, pp. 491-491

Authors: Mandel, H Szargel, R Labay, V Elpeleg, O Saada, A Shalata, A Anbinder, Y Berkowitz, D Hartman, C Barak, M Eriksson, S Cohen, N
Citation: H. Mandel et al., The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA, NAT GENET, 29(3), 2001, pp. 337-341

Authors: Saada, A Shaag, A Mandel, H Nevo, Y Eriksson, S Elpeleg, O
Citation: A. Saada et al., Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy, NAT GENET, 29(3), 2001, pp. 342-344

Authors: Arnon, S Litmanovits, I Regev, R Elpeleg, O Dolfin, T
Citation: S. Arnon et al., Dichloroacetate treatment for severe refractory metabolic acidosis during neonatal sepsis, PEDIAT INF, 20(2), 2001, pp. 218-219

Authors: Loeffen, J Elpeleg, O Smeitink, J Smeets, R Stockler-Ipsiroglu, S Mandel, H Sengers, R Trijbels, F van den Heuvel, L
Citation: J. Loeffen et al., Mutations in the complex INDUFS2 gene of patients with cardiomyopathy and encephalomyopathy, ANN NEUROL, 49(2), 2001, pp. 195-201

Authors: Anikster, Y Kleta, R Shaag, A Gahl, WA Elpeleg, O
Citation: Y. Anikster et al., Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): Identification of the OPA3 gene and its founder mutation in Iraqi Jews, AM J HU GEN, 69(6), 2001, pp. 1218-1224

Authors: Parvari, R Brodyansky, I Elpeleg, O Moses, S Landau, D Hershkovitz, E
Citation: R. Parvari et al., A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease, AM J HU GEN, 69(4), 2001, pp. 869-875
Risultati: 1-7 |