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Results: 1-10 |
Results: 10
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease
Authors: van Diggelen, OP Thobois, S Tilikete, C Zabot, MT Keulemans, JLM van Bunderen, PA Taschner, PEM Losekoot, M Voznyi, YV
Citation: Op. Van Diggelen et al., Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease, ANN NEUROL, 50(2), 2001, pp. 269-272
Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency: aspects of substrate specificity and correlation with clinical phenotype
Authors: Roe, DS Vianey-Saban, C Sharma, S Zabot, MT Roe, CR
Citation: Ds. Roe et al., Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency: aspects of substrate specificity and correlation with clinical phenotype, CLIN CHIM A, 312(1-2), 2001, pp. 55-67
Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype
Authors: Urban, Z Peyrol, S Plauchu, H Zabot, MT Lebwohl, M Schilling, K Green, M Boyd, CD Csiszar, K
Citation: Z. Urban et al., Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype, PEDIAT DERM, 17(1), 2000, pp. 12-20
Missense mutations in SURF1 associated with deficient cytochrome c oxidaseassembly in Leigh syndrome patients
Authors: Poyau, A Buchet, K Bouzidi, MF Zabot, MT Echenne, B Yao, JB Shoubridge, EA Godinot, C
Citation: A. Poyau et al., Missense mutations in SURF1 associated with deficient cytochrome c oxidaseassembly in Leigh syndrome patients, HUM GENET, 106(2), 2000, pp. 194-205
Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers
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
Type IV Ehlers-Danlos syndrome: diagnosis 17 years after intestinal manifestations
Authors: Zenone, T Grange, C Pelissier, P Zabot, MT Plauchu, H Durand, DV Levrat, R
Citation: T. Zenone et al., Type IV Ehlers-Danlos syndrome: diagnosis 17 years after intestinal manifestations, REV MED IN, 20(6), 1999, pp. 538-539
Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B
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
Excision repair defect in Rothmund Thomson syndrome
Authors: Vasseur, F Delaporte, E Zabot, MT Sturque, MN Barrut, D Savary, JB Thomas, L Thomas, P
Citation: F. Vasseur et al., Excision repair defect in Rothmund Thomson syndrome, ACT DER-VEN, 79(2), 1999, pp. 150-152
Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A
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
Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria
Authors: Coude, M Aupetit, J Zabot, MT Kamoun, P Chadefaux-Vekemans, B
Citation: M. Coude et al., Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria, J INH MET D, 21(8), 1998, pp. 823-828
Risultati: 1-10 |