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Gert Matthijs

Showing results (71-80 of 199) with videos related to

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Patient Education and Counseling|July 29, 2022
Exploring informed choice in preconception reproductive genetic carrier screening by using a modified Multidimensional Measure of Informed ChoiceEva Van Steijvoort, Hilde Peeters, Hilde Vandecruys, et al.
Human Reproduction Update|February 27, 2020
Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literatureEva Van Steijvoort, Davit Chokoshvili, Jeffrey W Cannon, et al.
Biological Chemistry|August 18, 2006
PREPL: a putative novel oligopeptidase propelled into the limelightKevin Martens, Rita Derua, Sandra Meulemans, et al.
Human Molecular Genetics|January 26, 2002
Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivationKathleen Freson, Gert Matthijs, Chantal Thys, et al.
Glycobiology|May 20, 2009
Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patientWendy Vleugels, Liesbeth Keldermans, Jaak Jaeken, et al.
European Journal of Human Genetics : EJHG|October 10, 2013
Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathyHui Zhao, Valérie Race, Gert Matthijs, et al.
Electrophoresis|June 28, 2018
Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patientsSandrine Duvet, Dounia Mouajjah, Romain Péanne, et al.
Methods in Cell Biology|December 4, 2013
Assessing ER and Golgi N-glycosylation process using metabolic labeling in mammalian cultured cellsRomain Péanne, Jorick Vanbeselaere, Dorothée Vicogne, et al.
European Journal of Human Genetics : EJHG|August 13, 2002
Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD)Geneviève Michils, Sabine Tejpar, Jean-Pierre Fryns, et al.
European Heart Journal|January 20, 2006
The CAREGENE study: polymorphisms of the beta1-adrenoceptor gene and aerobic power in coronary artery diseaseJohan Defoor, Kevin Martens, Dominika Zielinska, et al.
Pageof 20

Showing results (71-80 of 199) with videos related to

Sort By:
Pageof 20
Patient Education and Counseling|July 29, 2022
Exploring informed choice in preconception reproductive genetic carrier screening by using a modified Multidimensional Measure of Informed ChoiceEva Van Steijvoort, Hilde Peeters, Hilde Vandecruys, et al.
Human Reproduction Update|February 27, 2020
Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literatureEva Van Steijvoort, Davit Chokoshvili, Jeffrey W Cannon, et al.
Biological Chemistry|August 18, 2006
PREPL: a putative novel oligopeptidase propelled into the limelightKevin Martens, Rita Derua, Sandra Meulemans, et al.
Human Molecular Genetics|January 26, 2002
Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivationKathleen Freson, Gert Matthijs, Chantal Thys, et al.
Glycobiology|May 20, 2009
Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patientWendy Vleugels, Liesbeth Keldermans, Jaak Jaeken, et al.
European Journal of Human Genetics : EJHG|October 10, 2013
Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathyHui Zhao, Valérie Race, Gert Matthijs, et al.
Electrophoresis|June 28, 2018
Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patientsSandrine Duvet, Dounia Mouajjah, Romain Péanne, et al.
Methods in Cell Biology|December 4, 2013
Assessing ER and Golgi N-glycosylation process using metabolic labeling in mammalian cultured cellsRomain Péanne, Jorick Vanbeselaere, Dorothée Vicogne, et al.
European Journal of Human Genetics : EJHG|August 13, 2002
Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD)Geneviève Michils, Sabine Tejpar, Jean-Pierre Fryns, et al.
European Heart Journal|January 20, 2006
The CAREGENE study: polymorphisms of the beta1-adrenoceptor gene and aerobic power in coronary artery diseaseJohan Defoor, Kevin Martens, Dominika Zielinska, et al.
Pageof 20