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Gert Matthijs

Showing results (161-170 of 199) with videos related to

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Biorxiv : the Preprint Server for Biology|July 1, 2024
The N-glycosylation defect in Lec5 and Lec9 CHO cells is caused by absence of the DHRSX geneTakfarinas Kentache, Charlotte R Althoff, Francesco Caligiore, et al.
The Journal of Biological Chemistry|October 12, 2024
Absence of the dolichol synthesis gene DHRSX leads to N-glycosylation defects in Lec5 and Lec9 Chinese hamster ovary cellsTakfarinas Kentache, Charlotte R Althoff, Francesco Caligiore, et al.
European Journal of Human Genetics : EJHG|March 14, 2003
Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genesBlanka Stibůrková, Jacek Majewski, Katerina Hodanová, et al.
Human Molecular Genetics|March 9, 2022
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane traffickingMatthew P Wilson, Zoé Durin, Özlem Unal, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 1, 2019
Mutations in <i>MAGT1</i> lead to a glycosylation disorder with a variable phenotypeEline Blommaert, Romain Péanne, Natalia A Cherepanova, et al.
Glycobiology|May 30, 2003
Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesisMichael Butler, D Quelhas, Alison J Critchley, et al.
American Journal of Medical Genetics. Part A|April 11, 2003
Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndromeJohan L K Van Hove, Ron A Wevers, Johan Van Cleemput, et al.
American Journal of Human Genetics|January 9, 2008
Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16Irina Balikova, Kevin Martens, Cindy Melotte, et al.
The Biochemical Journal|March 9, 2017
Manganese-induced turnover of TMEM165Sven Potelle, Eudoxie Dulary, Leslie Climer, et al.
Molecular Genetics and Metabolism|August 12, 2015
Key features and clinical variability of COG6-CDGDaisy Rymen, Julia Winter, Peter M Van Hasselt, et al.
Pageof 20

Showing results (161-170 of 199) with videos related to

Sort By:
Pageof 20
Biorxiv : the Preprint Server for Biology|July 1, 2024
The N-glycosylation defect in Lec5 and Lec9 CHO cells is caused by absence of the DHRSX geneTakfarinas Kentache, Charlotte R Althoff, Francesco Caligiore, et al.
The Journal of Biological Chemistry|October 12, 2024
Absence of the dolichol synthesis gene DHRSX leads to N-glycosylation defects in Lec5 and Lec9 Chinese hamster ovary cellsTakfarinas Kentache, Charlotte R Althoff, Francesco Caligiore, et al.
European Journal of Human Genetics : EJHG|March 14, 2003
Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genesBlanka Stibůrková, Jacek Majewski, Katerina Hodanová, et al.
Human Molecular Genetics|March 9, 2022
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane traffickingMatthew P Wilson, Zoé Durin, Özlem Unal, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 1, 2019
Mutations in <i>MAGT1</i> lead to a glycosylation disorder with a variable phenotypeEline Blommaert, Romain Péanne, Natalia A Cherepanova, et al.
Glycobiology|May 30, 2003
Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesisMichael Butler, D Quelhas, Alison J Critchley, et al.
American Journal of Medical Genetics. Part A|April 11, 2003
Late-Onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo A syndromeJohan L K Van Hove, Ron A Wevers, Johan Van Cleemput, et al.
American Journal of Human Genetics|January 9, 2008
Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16Irina Balikova, Kevin Martens, Cindy Melotte, et al.
The Biochemical Journal|March 9, 2017
Manganese-induced turnover of TMEM165Sven Potelle, Eudoxie Dulary, Leslie Climer, et al.
Molecular Genetics and Metabolism|August 12, 2015
Key features and clinical variability of COG6-CDGDaisy Rymen, Julia Winter, Peter M Van Hasselt, et al.
Pageof 20