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Results: 1-9 |
Results: 9
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation. (vol 100, pg 223, 2001)
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
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: Possible single origin for 1091delC mutation
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
Homocysteine and the MTHFR 677C -> T allele in premature coronary artery disease. Case control and family studies
Authors: Pinto, X Vilaseca, MA Garcia-Giralt, N Ferrer, I Pala, M Meco, JF Mainou, C Ordovas, JM Grinberg, D Balcells, S
Citation: X. Pinto et al., Homocysteine and the MTHFR 677C -> T allele in premature coronary artery disease. Case control and family studies, EUR J CL IN, 31(1), 2001, pp. 24-30
A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease
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
No evidence of linkage to 6p markers in Spanish families with juvenile myoclonic epilepsy
Authors: Arroyo, S Santamaria, J Grinberg, D Oliva, R Obach, V
Citation: S. Arroyo et al., No evidence of linkage to 6p markers in Spanish families with juvenile myoclonic epilepsy, NEUROSCI L, 286(3), 2000, pp. 213-217
On the age of the most prevalent Gaucher disease-causing mutation, N370S
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
Detection and discrimination of subjective contours defined by offset gratings
Authors: Gurnsey, R Iordanova, M Grinberg, D
Citation: R. Gurnsey et al., Detection and discrimination of subjective contours defined by offset gratings, PERC PSYCH, 61(7), 1999, pp. 1256-1268
Gaucher disease: The N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago
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
Mutation analysis of Gaucher disease patients from Argentina: High prevalence of the RecNciI mutation
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
Risultati: 1-9 |