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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.
Neurology
|
May 13, 2011
Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2
P Van Damme, J H Veldink, M van Blitterswijk, 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.
Journal of Medical Genetics
|
July 6, 2004
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)
E Schollen, C G Frank, L Keldermans, 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.
Journal of Neurology, Neurosurgery, and Psychiatry
|
December 20, 2005
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency
J L K Van Hove, J Steyaert, G Matthijs, 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.
EJNMMI Research
|
December 30, 2025
Single-center experience comparing glass and resin microspheres in lobar Y-90 SIRT for early- to intermediate-stage hepatocellular carcinoma
Xinlin Zheng, Huan Xi, G Matthijs Kater, et al.
Human Genetics
|
June 1, 2000
Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene
F Hes, R Zewald, T Peeters, et al.
Journal of Medical Genetics
|
December 13, 2006
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis
J M van de Kamp, D J Lefeber, G J G Ruijter, et al.
Page
of 16
Search research articles
Search
Showing results (131-140 of 157) with videos related to
Sort By:
Page
of 16
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.
Neurology
|
May 13, 2011
Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2
P Van Damme, J H Veldink, M van Blitterswijk, 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.
Journal of Medical Genetics
|
July 6, 2004
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)
E Schollen, C G Frank, L Keldermans, 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.
Journal of Neurology, Neurosurgery, and Psychiatry
|
December 20, 2005
Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency
J L K Van Hove, J Steyaert, G Matthijs, 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.
EJNMMI Research
|
December 30, 2025
Single-center experience comparing glass and resin microspheres in lobar Y-90 SIRT for early- to intermediate-stage hepatocellular carcinoma
Xinlin Zheng, Huan Xi, G Matthijs Kater, et al.
Human Genetics
|
June 1, 2000
Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene
F Hes, R Zewald, T Peeters, et al.
Journal of Medical Genetics
|
December 13, 2006
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis
J M van de Kamp, D J Lefeber, G J G Ruijter, et al.
Page
of 16