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G Matthijs

Showing results (121-130 of 157) with videos related to

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Journal of Neurology|August 19, 2007
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screeningS Vermeer, H P H Kremer, Q H Leijten, et al.
Journal of Medical Genetics|September 3, 2004
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype mapG Van Buggenhout, C Melotte, B Dutta, et al.
Molecular and Cellular Biology|July 19, 2006
The normal phenotype of Pmm1-deficient mice suggests that Pmm1 is not essential for normal mouse developmentK Cromphout, W Vleugels, L Heykants, et al.
JIMD Reports|February 23, 2013
Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?M B Bistué Millón, M A Delgado, N B Azar, et al.
Case Reports in Gastroenterology|August 11, 2020
Successful Thrombectomy via a Surgically Reopened Umbilical Vein for Extended Portal Vein Thrombosis Caused by Portal Vein Embolization prior to Extended Liver ResectionWouter J M Derksen, Iris E M de Jong, Carlijn I Buis, et al.
American Journal of Medical Genetics|April 5, 2002
Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fracturesP Volders, J Van Hove, R J U Lories, et al.
Human Mutation|November 3, 2000
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)G Matthijs, E Schollen, C Bjursell, et al.
Journal of Inherited Metabolic Disease|April 23, 2003
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type IaP Briones, M A Vilaseca, E Schollen, et al.
Human Genetics|July 29, 2000
Multi-allelic origin of congenital disorder of glycosylation (CDG)-IcT Imbach, S Grünewald, B Schenk, et al.
American Journal of Human Genetics|March 26, 1999
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1K Devriendt, G Matthijs, R Van Dael, et al.
Pageof 16

Showing results (121-130 of 157) with videos related to

Sort By:
Pageof 16
Journal of Neurology|August 19, 2007
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screeningS Vermeer, H P H Kremer, Q H Leijten, et al.
Journal of Medical Genetics|September 3, 2004
Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype mapG Van Buggenhout, C Melotte, B Dutta, et al.
Molecular and Cellular Biology|July 19, 2006
The normal phenotype of Pmm1-deficient mice suggests that Pmm1 is not essential for normal mouse developmentK Cromphout, W Vleugels, L Heykants, et al.
JIMD Reports|February 23, 2013
Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?M B Bistué Millón, M A Delgado, N B Azar, et al.
Case Reports in Gastroenterology|August 11, 2020
Successful Thrombectomy via a Surgically Reopened Umbilical Vein for Extended Portal Vein Thrombosis Caused by Portal Vein Embolization prior to Extended Liver ResectionWouter J M Derksen, Iris E M de Jong, Carlijn I Buis, et al.
American Journal of Medical Genetics|April 5, 2002
Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fracturesP Volders, J Van Hove, R J U Lories, et al.
Human Mutation|November 3, 2000
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)G Matthijs, E Schollen, C Bjursell, et al.
Journal of Inherited Metabolic Disease|April 23, 2003
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type IaP Briones, M A Vilaseca, E Schollen, et al.
Human Genetics|July 29, 2000
Multi-allelic origin of congenital disorder of glycosylation (CDG)-IcT Imbach, S Grünewald, B Schenk, et al.
American Journal of Human Genetics|March 26, 1999
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1K Devriendt, G Matthijs, R Van Dael, et al.
Pageof 16