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Results: 1-7 |
Results: 7
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA (vol 29, pg 337, 2001)
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
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
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
The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families
Authors: Raz, T Labay, V Baron, D Szargel, R Anbinder, Y Barrett, T Rabl, W Viana, MB Mandel, H Baruchel, A Cayuela, JM Cohen, N
Citation: T. Raz et al., The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families, HUM MUTAT, 16(1), 2000, pp. 37-42
Settling the score on hairless - Reply
Authors: Sprecher, E Lestringant, GG Szargel, R Bergman, R Labay, V Frossard, PM Friedman-Birnbaum, R Cohen, N
Citation: E. Sprecher et al., Settling the score on hairless - Reply, J INVES DER, 115(4), 2000, pp. 762-763
Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness
Authors: Labay, V Raz, T Baron, D Mandel, H Williams, H Barrett, T Szargel, R McDonald, L Shalata, A Nosaka, K Gregory, S Cohen, N
Citation: V. Labay et al., Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness, NAT GENET, 22(3), 1999, pp. 300-304
Atrichia with papular lesions resulting from a nonsense mutation within the human hairless gene
Authors: Sprecher, E Lestringant, GG Szargel, R Bergman, R Labay, V Frossard, PM Friedman-Birnbaum, R Cohen, N
Citation: E. Sprecher et al., Atrichia with papular lesions resulting from a nonsense mutation within the human hairless gene, J INVES DER, 113(4), 1999, pp. 687-690
Atrichia with papular lesions maps to 8p in the region containing the human hairless gene
Authors: Sprecher, E Bergman, R Szargel, R Raz, T Labay, V Ramon, M Baruch-Gershoni, R Friedman-Birnbaum, R Cohen, N
Citation: E. Sprecher et al., Atrichia with papular lesions maps to 8p in the region containing the human hairless gene, AM J MED G, 80(5), 1998, pp. 546-550
Risultati: 1-7 |