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Human Mutation
|
November 3, 2000
PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families
C Bjursell, A Erlandson, M Nordling, et al.
Genomics
|
February 1, 1997
Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families
C Bjursell, H Stibler, J Wahlström, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
Carbohydrate-deficient glycoprotein syndrome type II
J Jaeken, P De Cock, H Stibler, et al.
Archives of Disease in Childhood
|
March 1, 1996
Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome
M Pineda, C Pavia, M A Vilaseca, et al.
Human Molecular Genetics
|
November 1, 1994
Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406
T Martinsson, C Bjursell, H Stibler, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1996
Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate-deficient glycoprotein syndrome
M T García Silva, J de Castro, H Stibler, et al.
Page
of 9
Search research articles
Search
Showing results (81-90 of 86) with videos related to
Sort By:
Page
of 9
You have reached the last page of results.
This site can display upto 86 results.
Human Mutation
|
November 3, 2000
PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families
C Bjursell, A Erlandson, M Nordling, et al.
Genomics
|
February 1, 1997
Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families
C Bjursell, H Stibler, J Wahlström, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
Carbohydrate-deficient glycoprotein syndrome type II
J Jaeken, P De Cock, H Stibler, et al.
Archives of Disease in Childhood
|
March 1, 1996
Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome
M Pineda, C Pavia, M A Vilaseca, et al.
Human Molecular Genetics
|
November 1, 1994
Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406
T Martinsson, C Bjursell, H Stibler, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1996
Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate-deficient glycoprotein syndrome
M T García Silva, J de Castro, H Stibler, et al.
Page
of 9