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M J Coll

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Revista De Neurologia|September 11, 2002
[The contribution of molecular genetics to hereditary neurometabolic disorders]M J Coll, A Ribes
Journal of Inherited Metabolic Disease|October 13, 1999
A new polymorphism in the iduronate-2-sulphatase gene. Implications for the diagnosis of Hunter diseaseL Gort, A Chabás, M J Coll
Journal of Inherited Metabolic Disease|April 5, 2001
Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutationsM J Coll, C Antón, A Chabás
Human Mutation|February 6, 1998
Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter diseaseL Gort, M J Coll, A Chabás
Human Mutation|April 24, 1999
Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. OnlineL Gort, A Chabás, M J Coll
Human Mutation|October 3, 2000
Metachromatic leukodystrophy: a novel mutation (c237delC) and extension of the haplotype associated with the P426L mutationL Gort, M J Coll, A Chabás
Human Mutation|January 29, 2000
Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definitionC Busquets, M J Coll, A Ribes
Journal of Inherited Metabolic Disease|October 8, 1998
Hunter disease in the Spanish population: molecular analysis in 31 familiesL Gort, A Chabás, M J Coll
Human Mutation|September 8, 1999
Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patientsL Gort, M J Coll, A Chabás
American Journal of Medical Genetics|April 29, 1998
X-linked adrenoleukodystrophy: phenotype distribution and expression of ALDP in Spanish kindredsM Ruiz, M J Coll, T Pàmpols, et al.
Pageof 5

Showing results (1-10 of 43) with videos related to

Sort By:
Pageof 5
Revista De Neurologia|September 11, 2002
[The contribution of molecular genetics to hereditary neurometabolic disorders]M J Coll, A Ribes
Journal of Inherited Metabolic Disease|October 13, 1999
A new polymorphism in the iduronate-2-sulphatase gene. Implications for the diagnosis of Hunter diseaseL Gort, A Chabás, M J Coll
Journal of Inherited Metabolic Disease|April 5, 2001
Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutationsM J Coll, C Antón, A Chabás
Human Mutation|February 6, 1998
Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter diseaseL Gort, M J Coll, A Chabás
Human Mutation|April 24, 1999
Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. OnlineL Gort, A Chabás, M J Coll
Human Mutation|October 3, 2000
Metachromatic leukodystrophy: a novel mutation (c237delC) and extension of the haplotype associated with the P426L mutationL Gort, M J Coll, A Chabás
Human Mutation|January 29, 2000
Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: identification of 3 novel polymorphisms and haplotype definitionC Busquets, M J Coll, A Ribes
Journal of Inherited Metabolic Disease|October 8, 1998
Hunter disease in the Spanish population: molecular analysis in 31 familiesL Gort, A Chabás, M J Coll
Human Mutation|September 8, 1999
Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patientsL Gort, M J Coll, A Chabás
American Journal of Medical Genetics|April 29, 1998
X-linked adrenoleukodystrophy: phenotype distribution and expression of ALDP in Spanish kindredsM Ruiz, M J Coll, T Pàmpols, et al.
Pageof 5