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Results: 1-6 |
Results: 6

Authors: Shalata, A Mandel, H Dorche, C Zabot, MT Shalev, S Hugeirat, Y Arieh, D Ronit, Z Reiss, J Anbinder, Y Cohen, N
Citation: A. Shalata et al., Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers, PRENAT DIAG, 20(1), 2000, pp. 7-11

Authors: Touati, G Rusthoven, E Depondt, E Dorche, C Duran, M Heron, B Rabier, D Russo, M Saudubray, JM
Citation: G. Touati et al., Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement, J INH MET D, 23(1), 2000, pp. 45-53

Authors: Reiss, J Christensen, E Dorche, C
Citation: J. Reiss et al., Molybdenum cofactor deficiency: First prenatal genetic analysis, PRENAT DIAG, 19(4), 1999, pp. 386-388

Authors: Carragher, FM Kirk, JM Steer, C Allen, J Dorche, C
Citation: Fm. Carragher et al., False negative thiosulphate screening test in a case of molybdenum cofactor deficiency, J INH MET D, 22(7), 1999, pp. 842-843

Authors: Reiss, J Dorche, C Stallmeyer, B Mendel, RR Cohen, N Zabot, MT
Citation: J. Reiss et al., Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B, AM J HU GEN, 64(3), 1999, pp. 706-711

Authors: Reiss, J Christensen, E Kurlemann, G Zabot, MT Dorche, C
Citation: J. Reiss et al., Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A, HUM GENET, 103(6), 1998, pp. 639-644
Risultati: 1-6 |