檢索結果 - Gert Matthijs

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  1. 1
    Congenital Disorders of Glycosylation: A Review

    Congenital Disorders of Glycosylation: A Review 由 Stephanie Grünewald, Gert Matthijs, Jaak Jaeken

    出版 2002
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  2. 2
    Desensitization to cytoplasmic Ca2+ and Ca2+ sensitivities of guinea‐pig ileum and rabbit pulmonary artery smooth muscle.

    Desensitization to cytoplasmic Ca2+ and Ca2+ sensitivities of guinea‐pig ileum and rabbit pulmonary artery smooth muscle. 由 Bernard Himpens, Gert Matthijs, A P Somlyo

    出版 1989
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  3. 3
    Carbohydrate deficient glycoprotein (CDG) syndrome type I.

    Carbohydrate deficient glycoprotein (CDG) syndrome type I. 由 Jaak Jaeken, Gert Matthijs, Rita Barone, Hubert Carchon

    出版 1997
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  4. 4
    How Golgi glycosylation meets and needs trafficking: the case of the COG complex

    How Golgi glycosylation meets and needs trafficking: the case of the COG complex 由 Ellen Reynders, François Foulquier, Wim Annaert, Gert Matthijs

    出版 2010
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  5. 5
    On the nomenclature of congenital disorders of glycosylation (CDG)

    On the nomenclature of congenital disorders of glycosylation (CDG) 由 J. Jaeken, Thierry Hennet, Hudson H. Freeze, Gert Matthijs

    出版 2008
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  6. 6
    CDG nomenclature: Time for a change!

    CDG nomenclature: Time for a change! 由 Jaak Jaeken, Thierry Hennet, Gert Matthijs, Hudson H. Freeze

    出版 2009
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  7. 7
    Deletion of Thyroid Transcription Factor-1 Gene in an Infant with Neonatal Thyroid Dysfunction and Respiratory Failure

    Deletion of Thyroid Transcription Factor-1 Gene in an Infant with Neonatal Thyroid Dysfunction and Respiratory Failure 由 Koenraad Devriendt, Christine Vanhole, Gert Matthijs, Francis de Zegher

    出版 1998
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  8. 8
    Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)

    Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia) 由 Els Schollen, Susanne Kjærgaard, Eric Legius, Marianne Schwartz, Gert Matthijs

    出版 2000
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  9. 9
    High Residual Activity of PMM2 in Patients’ Fibroblasts: Possible Pitfall in the Diagnosis of CDG-Ia (Phosphomannomutase Deficiency)

    High Residual Activity of PMM2 in Patients’ Fibroblasts: Possible Pitfall in the Diagnosis of CDG-Ia (Phosphomannomutase Deficiency) 由 Stephanie Grünewald, Els Schollen, Emile Van Schaftingen, Jaak Jaeken, Gert Matthijs

    出版 2001
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  10. 10
    Targeted Disruption of the Mouse Phosphomannomutase 2 Gene Causes Early Embryonic Lethality

    Targeted Disruption of the Mouse Phosphomannomutase 2 Gene Causes Early Embryonic Lethality 由 Christian Thiel, Torben Lübke, Gert Matthijs, Kurt Von Figura, Christian Körner

    出版 2006
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  11. 11
    Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1A

    Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1A 由 Gert Matthijs, Els Schollen, Emile Van Schaftingen, Jean‐Jacques Cassiman, Jaak Jaeken

    出版 1998
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  12. 12
    Cytoplasmic free calcium, myosin light chain phosphorylation, and force in phasic and tonic smooth muscle.

    Cytoplasmic free calcium, myosin light chain phosphorylation, and force in phasic and tonic smooth muscle. 由 Bernard Himpens, Gert Matthijs, Avril V. Somlyo, T. M. Butler, A P Somlyo

    出版 1988
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  13. 13
    Laboratory guidelines for molecular diagnosis of Y‐chromosomal microdeletions

    Laboratory guidelines for molecular diagnosis of Y‐chromosomal microdeletions 由 Manuela Simoni, Egbert Bakker, Eurlings, Gert Matthijs, Enrico Moro, Müller, Vogt Vogt

    出版 1999
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  14. 14
    A Novel Mutation (T65P) in the PAS Domain of the Human Potassium Channel HERG Results in the Long QT Syndrome by Trafficking Deficiency

    A Novel Mutation (T65P) in the PAS Domain of the Human Potassium Channel HERG Results in the Long QT Syndrome by Trafficking Deficiency 由 Aimée Paulussen, Adam Raes, Gert Matthijs, Dirk J. Snyders, Nadine Cohen, Jeroen Aerssens

    出版 2002
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  15. 15
    Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature

    Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature 由 Eva Van Steijvoort, Davit Chokoshvili, Jeffrey W. Cannon, Hilde Peeters, Karen Peeraer, Gert Matthijs, Pascal Borry

    出版 2020
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  16. 16
    Golgi function and dysfunction in the first COG4-deficient CDG type II patient

    Golgi function and dysfunction in the first COG4-deficient CDG type II patient 由 Ellen Reynders, François Foulquier, Elisa Leão Teles, Dulce Quelhas, Willy Morelle, Cathérine Rabouille, Wim Annaert, Gert Matthijs

    出版 2009
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  17. 17
    Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing

    Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing 由 Simon Ardui, Valérie Race, Alena Zablotskaya, Matthew S. Hestand, Hilde Van Esch, Koenraad Devriendt, Gert Matthijs, Joris Vermeesch

    出版 2016
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  18. 18
    Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165

    Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165 由 Renate Zeevaert, Francis de Zegher, Luisa Sturiale, Domenico Garozzo, Maria-Helena Smet, Marian Moens, Gert Matthijs, J. Jaeken

    出版 2012
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  19. 19
    Large deletions of the APC gene in 15% of mutation‐negative patients with classical polyposis (FAP): A Belgian study

    Large deletions of the APC gene in 15% of mutation‐negative patients with classical polyposis (FAP): A Belgian study 由 G Michils, Sabine Tejpar, Ronald Thoelen, Eric Van Cutsem, Joris Vermeesch, Jean‐Pierre Fryns, Eric Legius, Gert Matthijs

    出版 2005
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  20. 20
    N-glycosylation as a eukaryotic protective mechanism against protein aggregation

    N-glycosylation as a eukaryotic protective mechanism against protein aggregation 由 Ramon Duran‐Romaña, Bert Houben, Matthias De Vleeschouwer, Nikolaos Louros, Matthew P. Wilson, Gert Matthijs, Joost Schymkowitz, Fréderic Rousseau

    出版 2024
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