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G Matthijs

Showing results (131-140 of 157) with videos related to

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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 IeT Imbach, B Schenk, E Schollen, et al.
Neurology|May 13, 2011
Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2P 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 patientM 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 manifestationsB 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 deficiencyJ 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 profileE 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 carcinomaXinlin 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) geneF Hes, R Zewald, T Peeters, et al.
Journal of Medical Genetics|December 13, 2006
Congenital disorder of glycosylation type Ia presenting with hydrops fetalisJ M van de Kamp, D J Lefeber, G J G Ruijter, et al.
Pageof 16

Showing results (131-140 of 157) with videos related to

Sort By:
Pageof 16
The Journal of Clinical Investigation|January 22, 2000
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type IeT Imbach, B Schenk, E Schollen, et al.
Neurology|May 13, 2011
Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2P 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 patientM 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 manifestationsB 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 deficiencyJ 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 profileE 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 carcinomaXinlin 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) geneF Hes, R Zewald, T Peeters, et al.
Journal of Medical Genetics|December 13, 2006
Congenital disorder of glycosylation type Ia presenting with hydrops fetalisJ M van de Kamp, D J Lefeber, G J G Ruijter, et al.
Pageof 16