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Gert Matthijs

Showing results (31-40 of 199) with videos related to

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European Journal of Human Genetics : EJHG|November 10, 2016
Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylationJaak Jaeken, Dirk J Lefeber, Gert Matthijs
Biochemical and Biophysical Research Communications|October 20, 2009
Screening for OST deficiencies in unsolved CDG-I patientsWendy Vleugels, Els Schollen, François Foulquier, et al.
European Journal of Human Genetics : EJHG|October 3, 2002
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)Els Schollen, Kevin Martens, Elke Geuzens, et al.
Clinical Chemistry|February 2, 2012
Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genesSilke Hollants, Egbert J W Redeker, Gert Matthijs
Molecular Genetics and Metabolism|October 2, 2007
Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of GlycosylationRenate Zeevaert, François Foulquier, Jaak Jaeken, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 11, 2014
Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumptionAnders Helander, Jaak Jaeken, Gert Matthijs, et al.
Glycobiology|November 30, 2010
How Golgi glycosylation meets and needs trafficking: the case of the COG complexEllen Reynders, François Foulquier, Wim Annaert, et al.
Annals of Neurology|June 2, 2005
Should we screen for FMR1 premutations in female subjects presenting with ataxia?Hilde Van Esch, Gert Matthijs, Jean-Pierre Fryns
Nature Biotechnology|October 10, 2009
Legal uncertainty in the area of genetic diagnostic testingIsabelle Huys, Nele Berthels, Gert Matthijs, et al.
European Journal of Human Genetics : EJHG|December 14, 2012
The EuroGentest Clinical Utility Gene Cards continuedAnna Dierking, Jörg Schmidtke, Gert Matthijs, et al.
Pageof 20

Showing results (31-40 of 199) with videos related to

Sort By:
Pageof 20
European Journal of Human Genetics : EJHG|November 10, 2016
Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylationJaak Jaeken, Dirk J Lefeber, Gert Matthijs
Biochemical and Biophysical Research Communications|October 20, 2009
Screening for OST deficiencies in unsolved CDG-I patientsWendy Vleugels, Els Schollen, François Foulquier, et al.
European Journal of Human Genetics : EJHG|October 3, 2002
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)Els Schollen, Kevin Martens, Elke Geuzens, et al.
Clinical Chemistry|February 2, 2012
Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genesSilke Hollants, Egbert J W Redeker, Gert Matthijs
Molecular Genetics and Metabolism|October 2, 2007
Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of GlycosylationRenate Zeevaert, François Foulquier, Jaak Jaeken, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 11, 2014
Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumptionAnders Helander, Jaak Jaeken, Gert Matthijs, et al.
Glycobiology|November 30, 2010
How Golgi glycosylation meets and needs trafficking: the case of the COG complexEllen Reynders, François Foulquier, Wim Annaert, et al.
Annals of Neurology|June 2, 2005
Should we screen for FMR1 premutations in female subjects presenting with ataxia?Hilde Van Esch, Gert Matthijs, Jean-Pierre Fryns
Nature Biotechnology|October 10, 2009
Legal uncertainty in the area of genetic diagnostic testingIsabelle Huys, Nele Berthels, Gert Matthijs, et al.
European Journal of Human Genetics : EJHG|December 14, 2012
The EuroGentest Clinical Utility Gene Cards continuedAnna Dierking, Jörg Schmidtke, Gert Matthijs, et al.
Pageof 20