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Results: 1-17 |
Results: 17
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome (vol 9, pg 253, 2001)
Authors: Houten, SM Koster, J Romeijn, GJ Frenkel, J Di Rocco, M Caruso, U Landrieu, P Kelley, RI Kuis, W Poll-The, BT Gibson, KM Wanders, RJA Waterham, HR
Citation: Sm. Houten et al., Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome (vol 9, pg 253, 2001), EUR J HUM G, 9(8), 2001, pp. 651-651
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome
Authors: Houten, SM Koster, J Romeijn, GJ Frenkel, J Di Rocco, M Caruso, U Landrieu, P Kelley, RI Kuis, W Poll-The, BT Gibson, KM Wanders, RJA Waterham, HR
Citation: Sm. Houten et al., Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome, EUR J HUM G, 9(4), 2001, pp. 253-259
Rigid-chain metallomesogenic polymers containing vanadyl or copper(II) ions coordinated in the main chain
Authors: Caruso, U Panunzi, B Roviello, A Sirigu, A Spasiano, D
Citation: U. Caruso et al., Rigid-chain metallomesogenic polymers containing vanadyl or copper(II) ions coordinated in the main chain, J POL SC PC, 39(13), 2001, pp. 2342-2349
Monozygotic twins with X-linked adrenoleukodystrophy and different phenotypes
Authors: Di Rocco, M Doria-Lamba, L Caruso, U
Citation: M. Di Rocco et al., Monozygotic twins with X-linked adrenoleukodystrophy and different phenotypes, ANN NEUROL, 50(3), 2001, pp. 424-424
Main chain liquid crystalline polymers with laterally linked organometallic mesogens
Authors: Caruso, U Roviello, A Sirigu, A Troise, C
Citation: U. Caruso et al., Main chain liquid crystalline polymers with laterally linked organometallic mesogens, LIQ CRYST, 28(5), 2001, pp. 721-727
Cobalamin (Cbl) C/D deficiency: Clinical, neurophysiological and neuroradiologic findings in 14 cases
Authors: Biancheri, R Cerone, R Schiaffino, MC Caruso, U Veneselli, E Perrone, MV Rossi, A Gatti, R
Citation: R. Biancheri et al., Cobalamin (Cbl) C/D deficiency: Clinical, neurophysiological and neuroradiologic findings in 14 cases, NEUROPEDIAT, 32(1), 2001, pp. 14-22
Glycine N-methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia
Authors: Mudd, SH Cerone, R Schiaffino, MC Fantasia, AR Minniti, G Caruso, U Lorini, R Watkins, D Matiaszuk, N Rosenblatt, DS Schwahn, B Rozen, R LeGros, L Kotb, M Capdevila, A Luka, Z Finkelstein, JD Tangerman, A Stabler, SP Allen, RH Wagner, C
Citation: Sh. Mudd et al., Glycine N-methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia, J INH MET D, 24(4), 2001, pp. 448-464
Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D
Authors: Di Rocco, M Caruso, U Waterham, HR Picco, P Loy, A Wanders, RJA
Citation: M. Di Rocco et al., Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D, J INH MET D, 24(3), 2001, pp. 411-412
Side chain organometallic polymers containing cyclopalladated potentially second order nonlinear optical active fragments as pendants
Authors: Caruso, U Di Matola, A Panunzi, B Roviello, A Sirigua, A
Citation: U. Caruso et al., Side chain organometallic polymers containing cyclopalladated potentially second order nonlinear optical active fragments as pendants, POLYMER, 42(9), 2001, pp. 3973-3980
Facial anomalies in combined methylmalonic aciduria and homocystinuria
Authors: Cerone, R Schiaffino, MC Caruso, U Gatti, R
Citation: R. Cerone et al., Facial anomalies in combined methylmalonic aciduria and homocystinuria, AM J MED G, 95(1), 2000, pp. 87-87
The 37th Annual Symposium of the SSIEM - Genova 1999 - Preface
Authors: Cerone, R Caruso, U Besley, GTN Pollitt, RJ Brown, GK Hoffmann, GF Gibson, KM
Citation: R. Cerone et al., The 37th Annual Symposium of the SSIEM - Genova 1999 - Preface, J INH MET D, 23(3), 2000, pp. 195-196
Cholesteric liquid crystal polymers containing coordinated copper(II) in the main chain
Authors: Bacilieri, A Caruso, U Panunzi, B Roviello, A Sirigu, A
Citation: A. Bacilieri et al., Cholesteric liquid crystal polymers containing coordinated copper(II) in the main chain, POLYMER, 41(17), 2000, pp. 6423-6430
Liquid crystalline properties of linear and network polymers containing allyl groups as lateral substituents
Authors: Caruso, U Roviello, A Sirigu, A Troise, C
Citation: U. Caruso et al., Liquid crystalline properties of linear and network polymers containing allyl groups as lateral substituents, MOL CRYST A, 336, 1999, pp. 1-15
3-methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease
Authors: Di Rocco, M Caruso, U Moroni, I Lupino, S Lamantea, E Fantasia, AR Borrone, C Gibson, KM
Citation: M. Di Rocco et al., 3-methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease, J INH MET D, 22(5), 1999, pp. 593-A598
Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism
Authors: Cerone, R Schiaffino, MC Caruso, U Lupino, S Gatti, R
Citation: R. Cerone et al., Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism, J INH MET D, 22(3), 1999, pp. 247-250
Multi-oriented and fibrous liquid crystalline networks based on linear mesogenic polymers
Authors: Caruso, U Hatfull, L Roviello, A Sirigu, A
Citation: U. Caruso et al., Multi-oriented and fibrous liquid crystalline networks based on linear mesogenic polymers, POLYMER, 40(24), 1999, pp. 6753-6760
Synthesis and characterisation of main-chain oligomeric cyclopalladated azobenzene complexes
Authors: Ghedini, M Morrone, S Caruso, U Roviello, A
Citation: M. Ghedini et al., Synthesis and characterisation of main-chain oligomeric cyclopalladated azobenzene complexes, INORG CHIM, 292(2), 1999, pp. 163-171
Risultati: 1-17 |