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Gert Matthijs

Showing results (131-140 of 199) with videos related to

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European Journal of Medical Genetics|February 7, 2012
Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genesHanne Sorte, Lars Mørkrid, Olaug Rødningen, et al.
Human Molecular Genetics|January 16, 2007
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formationFrançois Foulquier, Daniel Ungar, Ellen Reynders, et al.
Orphanet Journal of Rare Diseases|December 12, 2012
COG5-CDG: expanding the clinical spectrumDaisy Rymen, Liesbeth Keldermans, Valérie Race, et al.
European Journal of Medical Genetics|October 29, 2017
Congenital disorders of glycosylation (CDG): Quo vadis?Romain Péanne, Pascale de Lonlay, François Foulquier, et al.
Plos One|May 7, 2015
Correlation between the Lactate Dehydrogenase Levels with Laboratory Variables in the Clinical Severity of Sickle Cell Anemia in Congolese PatientsTite Minga Mikobi, Prosper Lukusa Tshilobo, Michel Ntetani Aloni, et al.
Human Molecular Genetics|March 25, 2016
Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasisSven Potelle, Willy Morelle, Eudoxie Dulary, et al.
Biochimica Et Biophysica Acta. General Subjects|November 8, 2017
Investigating the function of Gdt1p in yeast Golgi glycosylationEudoxie Dulary, Shin-Yi Yu, Marine Houdou, et al.
American Journal of Human Genetics|December 31, 2005
Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndromeJaak Jaeken, Kevin Martens, Inge Francois, et al.
Leukemia & Lymphoma|August 25, 2012
Analysis of microsatellite instability in gastric mucosa-associated lymphoid tissue lymphomaAnnemarie Degroote, Lies Knippenberg, Sara Vander Borght, et al.
European Journal of Human Genetics : EJHG|June 21, 2007
Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndromeKevin Martens, Inge Heulens, Sandra Meulemans, et al.
Pageof 20

Showing results (131-140 of 199) with videos related to

Sort By:
Pageof 20
European Journal of Medical Genetics|February 7, 2012
Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genesHanne Sorte, Lars Mørkrid, Olaug Rødningen, et al.
Human Molecular Genetics|January 16, 2007
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formationFrançois Foulquier, Daniel Ungar, Ellen Reynders, et al.
Orphanet Journal of Rare Diseases|December 12, 2012
COG5-CDG: expanding the clinical spectrumDaisy Rymen, Liesbeth Keldermans, Valérie Race, et al.
European Journal of Medical Genetics|October 29, 2017
Congenital disorders of glycosylation (CDG): Quo vadis?Romain Péanne, Pascale de Lonlay, François Foulquier, et al.
Plos One|May 7, 2015
Correlation between the Lactate Dehydrogenase Levels with Laboratory Variables in the Clinical Severity of Sickle Cell Anemia in Congolese PatientsTite Minga Mikobi, Prosper Lukusa Tshilobo, Michel Ntetani Aloni, et al.
Human Molecular Genetics|March 25, 2016
Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasisSven Potelle, Willy Morelle, Eudoxie Dulary, et al.
Biochimica Et Biophysica Acta. General Subjects|November 8, 2017
Investigating the function of Gdt1p in yeast Golgi glycosylationEudoxie Dulary, Shin-Yi Yu, Marine Houdou, et al.
American Journal of Human Genetics|December 31, 2005
Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndromeJaak Jaeken, Kevin Martens, Inge Francois, et al.
Leukemia & Lymphoma|August 25, 2012
Analysis of microsatellite instability in gastric mucosa-associated lymphoid tissue lymphomaAnnemarie Degroote, Lies Knippenberg, Sara Vander Borght, et al.
European Journal of Human Genetics : EJHG|June 21, 2007
Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndromeKevin Martens, Inge Heulens, Sandra Meulemans, et al.
Pageof 20