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Gert Matthijs

Showing results (151-160 of 199) with videos related to

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Epilepsia|November 22, 2007
Epilepsy as part of the phenotype associated with ATP1A2 mutationsLiesbet Deprez, Sarah Weckhuysen, Katelijne Peeters, et al.
Human Molecular Genetics|February 21, 2012
Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosisSarah Herdewyn, Hui Zhao, Matthieu Moisse, et al.
American Journal of Human Genetics|May 6, 2008
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardationFlorence Molinari, François Foulquier, Patrick S Tarpey, et al.
Human Mutation|January 4, 2012
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-IpChristian Thiel, Nina Rind, Diana Popovici, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?Peter Witters, Tomas Honzik, Eric Bauchart, et al.
Clinical Chemistry|February 20, 2010
Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanningChristopher J Mattocks, Gemma Watkins, Daniel Ward, et al.
The Journal of Pediatrics|November 1, 2002
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic originsGregory M Enns, Robert D Steiner, Neil Buist, et al.
JIMD Reports|March 17, 2021
SLC37A4-CDG: Second patientMatthew P Wilson, Dulce Quelhas, Elisa Leão-Teles, et al.
Elife|August 3, 2014
Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaksHui Zhao, Bernard Thienpont, Betül Tuba Yesilyurt, et al.
Molecular Genetics and Metabolism Reports|March 12, 2024
Natural history of three late-diagnosed classic Galactosemia patientsDulce Quelhas, Sandra D K Kingma, An I Jonckheere, et al.
Pageof 20

Showing results (151-160 of 199) with videos related to

Sort By:
Pageof 20
Epilepsia|November 22, 2007
Epilepsy as part of the phenotype associated with ATP1A2 mutationsLiesbet Deprez, Sarah Weckhuysen, Katelijne Peeters, et al.
Human Molecular Genetics|February 21, 2012
Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosisSarah Herdewyn, Hui Zhao, Matthieu Moisse, et al.
American Journal of Human Genetics|May 6, 2008
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardationFlorence Molinari, François Foulquier, Patrick S Tarpey, et al.
Human Mutation|January 4, 2012
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-IpChristian Thiel, Nina Rind, Diana Popovici, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?Peter Witters, Tomas Honzik, Eric Bauchart, et al.
Clinical Chemistry|February 20, 2010
Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanningChristopher J Mattocks, Gemma Watkins, Daniel Ward, et al.
The Journal of Pediatrics|November 1, 2002
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic originsGregory M Enns, Robert D Steiner, Neil Buist, et al.
JIMD Reports|March 17, 2021
SLC37A4-CDG: Second patientMatthew P Wilson, Dulce Quelhas, Elisa Leão-Teles, et al.
Elife|August 3, 2014
Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaksHui Zhao, Bernard Thienpont, Betül Tuba Yesilyurt, et al.
Molecular Genetics and Metabolism Reports|March 12, 2024
Natural history of three late-diagnosed classic Galactosemia patientsDulce Quelhas, Sandra D K Kingma, An I Jonckheere, et al.
Pageof 20