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Results: 1-9 |
Results: 9
Mutation analysis of the MCM gene in Israeli patients with mut(0) disease
Authors: Berger, I Shaag, A Anikster, Y Baumgartner, ER Bar-Meir, M Joseph, A Elpeleg, ON
Citation: I. Berger et al., Mutation analysis of the MCM gene in Israeli patients with mut(0) disease, MOL GEN MET, 73(1), 2001, pp. 107-110
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
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
Antenatal presentation of carnitine palmitoyltransferase II deficiency
Authors: Elpeleg, ON Hammerman, C Saada, A Shaag, A Golzand, E Hochner-Celnikier, D Berger, I Nadjari, M
Citation: On. Elpeleg et al., Antenatal presentation of carnitine palmitoyltransferase II deficiency, AM J MED G, 102(2), 2001, pp. 183-187
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
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
Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews
Authors: Shaag, A Saada, A Berger, I Mandel, H Joseph, A Feigenbaum, A Elpeleg, ON
Citation: A. Shaag et al., Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews, AM J MED G, 82(2), 1999, pp. 177-182
The spectrum of mutations of the aspartoacylase gene in Canavan disease innon-Jewish patients
Authors: Elpeleg, ON Shaag, A
Citation: On. Elpeleg et A. Shaag, The spectrum of mutations of the aspartoacylase gene in Canavan disease innon-Jewish patients, J INH MET D, 22(4), 1999, pp. 531-534
Prenatal diagnosis of Canavan disease - Problems and dilemmas
Authors: Besley, GTN Elpeleg, ON Shaag, A Manning, NJ Jakobs, C Walter, JH
Citation: Gtn. Besley et al., Prenatal diagnosis of Canavan disease - Problems and dilemmas, J INH MET D, 22(3), 1999, pp. 263-266
Cone and rod dysfunction in the NARP syndrome
Authors: Chowers, I Lerman-Sagie, T Elpeleg, ON Shaag, A Merin, S
Citation: I. Chowers et al., Cone and rod dysfunction in the NARP syndrome, BR J OPHTH, 83(2), 1999, pp. 190-193
Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain
Authors: Shany, E Saada, A Landau, D Shaag, A Hershkovitz, E Elpeleg, ON
Citation: E. Shany et al., Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain, BIOC BIOP R, 262(1), 1999, pp. 163-166
Risultati: 1-9 |