Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

M J Coll

Showing results (21-30 of 43) with videos related to

Pageof 5
Sort By:
JIMD Reports|February 28, 2016
Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy SyndromeM Pineda, M O'Callaghan, A Fernandez Lopez, et al.
American Journal of Medical Genetics|May 9, 2001
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutationA Chabás, M Montfort, M Martínez-Campos, et al.
Human Mutation|September 23, 1998
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patientsM Montfort, L Vilageliu, N Garcia-Giralt, et al.
Journal of Inherited Metabolic Disease|August 1, 1998
Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villiC Busquets, M J Coll, E Christensen, et al.
Prenatal Diagnosis|October 4, 2000
Prenatal molecular diagnosis of glutaric aciduria type I by direct mutation analysisC Busquets, M J Coll, B Merinero, et al.
The Journal of Biological Chemistry|October 25, 1990
Calmodulin-binding proteins in the nuclei of quiescent and proliferatively activated rat liver cellsO Bachs, L Lanini, J Serratosa, et al.
Clinical Genetics|August 20, 2010
Molecular analysis of 30 Niemann-Pick type C patients from SpainJ Macías-Vidal, L Rodríguez-Pascau, G Sánchez-Ollé, et al.
The British Journal of Dermatology|October 9, 2002
Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuriaE Vargas-Díez, A Chabás, M J Coll, et al.
Archives of Dermatology|October 1, 1996
Angiokeratoma corporis diffusum associated with beta-mannosidase deficiencyM Rodríguez-Serna, R Botella-Estrada, A Chabás, et al.
Anales De Pediatria (Barcelona, Spain : 2003)|July 2, 2005
[Outcome of two patients with Hurler's syndrome under enzyme replacement therapy with human recombinant alpha-L-iduronidase]O Sardón, C García Pardos, J Mintegui, et al.
Pageof 5

Showing results (21-30 of 43) with videos related to

Sort By:
Pageof 5
JIMD Reports|February 28, 2016
Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy SyndromeM Pineda, M O'Callaghan, A Fernandez Lopez, et al.
American Journal of Medical Genetics|May 9, 2001
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutationA Chabás, M Montfort, M Martínez-Campos, et al.
Human Mutation|September 23, 1998
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patientsM Montfort, L Vilageliu, N Garcia-Giralt, et al.
Journal of Inherited Metabolic Disease|August 1, 1998
Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villiC Busquets, M J Coll, E Christensen, et al.
Prenatal Diagnosis|October 4, 2000
Prenatal molecular diagnosis of glutaric aciduria type I by direct mutation analysisC Busquets, M J Coll, B Merinero, et al.
The Journal of Biological Chemistry|October 25, 1990
Calmodulin-binding proteins in the nuclei of quiescent and proliferatively activated rat liver cellsO Bachs, L Lanini, J Serratosa, et al.
Clinical Genetics|August 20, 2010
Molecular analysis of 30 Niemann-Pick type C patients from SpainJ Macías-Vidal, L Rodríguez-Pascau, G Sánchez-Ollé, et al.
The British Journal of Dermatology|October 9, 2002
Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuriaE Vargas-Díez, A Chabás, M J Coll, et al.
Archives of Dermatology|October 1, 1996
Angiokeratoma corporis diffusum associated with beta-mannosidase deficiencyM Rodríguez-Serna, R Botella-Estrada, A Chabás, et al.
Anales De Pediatria (Barcelona, Spain : 2003)|July 2, 2005
[Outcome of two patients with Hurler's syndrome under enzyme replacement therapy with human recombinant alpha-L-iduronidase]O Sardón, C García Pardos, J Mintegui, et al.
Pageof 5