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Results:
1-17
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Results: 17
Authors:
Chabas, A
Jeannette, D
Citation: A. Chabas et D. Jeannette, Weathering of marbles and granites in marine environment: petrophysical properties and special role of atmospheric salts, ENVIR GEOL, 40(3), 2001, pp. 359-368
Authors:
Chabas, A
Montfort, M
Martinez-Campos, M
Diaz, A
Coll, MJ
Grinberg, D
Vilageliu, L
Citation: A. Chabas et al., Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation. (vol 100, pg 223, 2001), AM J MED G, 102(3), 2001, pp. 308-308
Authors:
Chabas, A
Montfort, M
Martinez-Campos, M
Diaz, A
Coll, MJ
Grinberg, D
Vilageliu, L
Citation: A. Chabas et al., Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: Possible single origin for 1091delC mutation, AM J MED G, 100(3), 2001, pp. 223-228
Authors:
Coll, MJ
Anton, C
Chabas, A
Citation: Mj. Coll et al., Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations, J INH MET D, 24(1), 2001, pp. 83-84
Authors:
Chabas, A
Jeannette, D
Lefevre, RA
Citation: A. Chabas et al., Crystallization and dissolution of airborne sea-salts on weathered marble in a coastal environment at Delos (Cyclades-Greece), ATMOS ENVIR, 34(2), 2000, pp. 219-224
Authors:
Chabas, A
Lefevre, RA
Citation: A. Chabas et Ra. Lefevre, Chemistry and microscopy of atmospheric particulates at Delos (Cyclades-Greece), ATMOS ENVIR, 34(2), 2000, pp. 225-238
Authors:
Cormand, B
Diaz, A
Grinberg, D
Chabas, A
Vilageliu, L
Citation: B. Cormand et al., A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease, BL CELL M D, 26(5), 2000, pp. 409-416
Authors:
Wrobe, D
Henseler, M
Huettler, S
Pascual, SIP
Chabas, A
Sandhoff, K
Citation: D. Wrobe et al., A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD), J INH MET D, 23(1), 2000, pp. 63-76
Authors:
Barone, R
Pavone, V
Nigro, F
Chabas, A
Fiumara, A
Citation: R. Barone et al., Extraordinary bone involvement in a Gaucher disease type I patient, BR J HAEM, 108(4), 2000, pp. 838-841
Authors:
Diaz, A
Montfort, M
Cormand, B
Zeng, BJ
Pastores, GM
Chabas, A
Vilageliu, L
Grinberg, D
Citation: A. Diaz et al., On the age of the most prevalent Gaucher disease-causing mutation, N370S, AM J HU GEN, 66(6), 2000, pp. 2014-2015
Authors:
Gort, L
Coll, MJ
Chabas, A
Citation: L. Gort et al., Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: Haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients, HUM MUTAT, 14(3), 1999, pp. 240-248
Authors:
Ara, JR
Mayayo, E
Marzo, ME
Guelbenzu, S
Chabas, A
Pina, MA
Calderon, C
Citation: Jr. Ara et al., Neurological impairment in alpha-mannosidosis: a longitudinal clinical andMRI study of a brother and sister, CHILD NERV, 15(8), 1999, pp. 369-371
Authors:
Gort, L
Chabas, A
Coll, MJ
Citation: L. Gort et al., A new polymorphism in the iduronate-2-sulphatase gene. Implications for the diagnosis of Hunter disease, J INH MET D, 22(7), 1999, pp. 844-844
Authors:
Diaz, A
Montfort, M
Cormand, B
Zeng, BJ
Pastores, GM
Chabas, A
Vilageliu, L
Grinberg, D
Citation: A. Diaz et al., Gaucher disease: The N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago, AM J HU GEN, 64(4), 1999, pp. 1233-1238
Authors:
Pampols, T
Pineda, M
Giros, ML
Ferrer, I
Cusi, V
Chabas, A
Sanmarti, FX
Vanier, MT
Christomanou, H
Citation: T. Pampols et al., Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant, ACT NEUROP, 97(1), 1999, pp. 91-97
Authors:
Cormand, B
Harboe, TL
Gort, L
Campoy, C
Blanco, M
Chamoles, N
Chabas, A
Vilageliu, L
Grinberg, D
Citation: B. Cormand et al., Mutation analysis of Gaucher disease patients from Argentina: High prevalence of the RecNciI mutation, AM J MED G, 80(4), 1998, pp. 343-351
Authors:
Chabas, A
Jeannette, D
Lefevre, R
Citation: A. Chabas et al., Weathering of the Delos marble and granite: Role of the polluted atmospheric and natural marine environment, B CORRESP H, 122(2), 1998, pp. 487-500
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