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Journal of Inherited Metabolic Disease
|
April 23, 2003
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia
P Briones, M A Vilaseca, E Schollen, et al.
Journal of Inherited Metabolic Disease
|
January 27, 2005
Congenital disorder of glycosylation (CDG) type Ie. A new patient
M T García-Silva, G Matthijs, E Schollen, et al.
The Journal of Clinical Investigation
|
January 22, 2000
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie
T Imbach, B Schenk, E Schollen, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
October 25, 2008
Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations
B Pérez-Dueñas, A García-Cazorla, M Pineda, et al.
American Journal of Medical Genetics. Part A
|
December 4, 2004
Rett syndrome in females with CTS hot spot deletions: a disorder profile
E Smeets, P Terhal, P Casaer, et al.
Human Mutation
|
September 12, 2000
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
E Schollen, L Dorland, T J de Koning, et al.
Page
of 4
Search research articles
Search
Showing results (31-40 of 36) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 36 results.
Journal of Inherited Metabolic Disease
|
April 23, 2003
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia
P Briones, M A Vilaseca, E Schollen, et al.
Journal of Inherited Metabolic Disease
|
January 27, 2005
Congenital disorder of glycosylation (CDG) type Ie. A new patient
M T García-Silva, G Matthijs, E Schollen, et al.
The Journal of Clinical Investigation
|
January 22, 2000
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie
T Imbach, B Schenk, E Schollen, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
October 25, 2008
Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations
B Pérez-Dueñas, A García-Cazorla, M Pineda, et al.
American Journal of Medical Genetics. Part A
|
December 4, 2004
Rett syndrome in females with CTS hot spot deletions: a disorder profile
E Smeets, P Terhal, P Casaer, et al.
Human Mutation
|
September 12, 2000
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib)
E Schollen, L Dorland, T J de Koning, et al.
Page
of 4