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Acta Ortopedica Mexicana
|
September 6, 2018
[Clinical and molecular study in a family with multiple osteochondromatosis]
F Cammarata-Scalisi, F Stock, A Avendaño, et al.
Human Genetics
|
May 1, 1992
Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population
A Cobo, D Grinberg, S Balcells, et al.
American Journal of Medical Genetics
|
June 27, 1997
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses
B Cormand, D Grinberg, L Gort, et al.
Journal of Medical Genetics
|
September 11, 1998
Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis
A Chabás, L Gort, M Montfort, et al.
Blood Cells, Molecules & Diseases
|
January 11, 2002
New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms
A Rodríguez-Marí, A Díaz-Font, A Chabás, 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 mutation
A Chabás, M Montfort, M Martínez-Campos, et al.
Human Mutation
|
September 23, 1998
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients
M Montfort, L Vilageliu, N Garcia-Giralt, et al.
Human Mutation
|
January 1, 1995
Gaucher disease in Spanish patients: analysis of eight mutations
B Cormand, L Vilageliu, J M Burguera, et al.
American Journal of Human Genetics
|
May 10, 2000
On the age of the most prevalent Gaucher disease-causing mutation, N370S
A Díaz, M Montfort, B Cormand, et al.
American Journal of Human Genetics
|
March 26, 1999
Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago
A Díaz, M Montfort, B Cormand, et al.
Page
of 6
Search research articles
Search
Showing results (21-30 of 60) with videos related to
Sort By:
Page
of 6
Acta Ortopedica Mexicana
|
September 6, 2018
[Clinical and molecular study in a family with multiple osteochondromatosis]
F Cammarata-Scalisi, F Stock, A Avendaño, et al.
Human Genetics
|
May 1, 1992
Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population
A Cobo, D Grinberg, S Balcells, et al.
American Journal of Medical Genetics
|
June 27, 1997
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses
B Cormand, D Grinberg, L Gort, et al.
Journal of Medical Genetics
|
September 11, 1998
Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis
A Chabás, L Gort, M Montfort, et al.
Blood Cells, Molecules & Diseases
|
January 11, 2002
New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms
A Rodríguez-Marí, A Díaz-Font, A Chabás, 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 mutation
A Chabás, M Montfort, M Martínez-Campos, et al.
Human Mutation
|
September 23, 1998
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients
M Montfort, L Vilageliu, N Garcia-Giralt, et al.
Human Mutation
|
January 1, 1995
Gaucher disease in Spanish patients: analysis of eight mutations
B Cormand, L Vilageliu, J M Burguera, et al.
American Journal of Human Genetics
|
May 10, 2000
On the age of the most prevalent Gaucher disease-causing mutation, N370S
A Díaz, M Montfort, B Cormand, et al.
American Journal of Human Genetics
|
March 26, 1999
Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago
A Díaz, M Montfort, B Cormand, et al.
Page
of 6