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Gert Matthijs

Showing results (91-100 of 199) with videos related to

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Biochimie|February 15, 2011
Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I)Wendy Vleugels, Sandrine Duvet, Romain Peanne, et al.
Personalized Medicine|June 4, 2021
Expanded carrier screening in Flanders (Belgium): an online survey on the perspectives of nonpregnant reproductive-aged womenEva Van Steijvoort, Heleen Devolder, Inne Geysen, et al.
Human Mutation|November 25, 2016
Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule SequencingSimon Ardui, Valerie Race, Alena Zablotskaya, et al.
Journal of Clinical Laboratory Analysis|April 11, 2022
DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of CongoMamy Ngole, Valerie Race, Gloire Mbayabo, et al.
Human Mutation|January 12, 2005
Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian studyGeneviève Michils, Sabine Tejpar, Reinhilde Thoelen, et al.
Genes, Chromosomes & Cancer|June 27, 2013
EPCAM germline and somatic rearrangements in Lynch syndrome: identification of a novel 3'EPCAM deletionMarijke Spaepen, Esther Neven, Xavier Sagaert, et al.
American Journal of Medical Genetics. Part A|July 2, 2015
ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutationLaureline Lepais, David Cheillan, Sophie Collardeau Frachon, et al.
Glycobiology|January 23, 2015
Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDGRiet Bammens, Nickita Mehta, Valérie Race, et al.
Science Advances|January 31, 2024
N-glycosylation as a eukaryotic protective mechanism against protein aggregationRamon Duran-Romaña, Bert Houben, Matthias De Vleeschouwer, et al.
Human Molecular Genetics|November 15, 2008
Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1Renate Zeevaert, François Foulquier, Boyan Dimitrov, et al.
Pageof 20

Showing results (91-100 of 199) with videos related to

Sort By:
Pageof 20
Biochimie|February 15, 2011
Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I)Wendy Vleugels, Sandrine Duvet, Romain Peanne, et al.
Personalized Medicine|June 4, 2021
Expanded carrier screening in Flanders (Belgium): an online survey on the perspectives of nonpregnant reproductive-aged womenEva Van Steijvoort, Heleen Devolder, Inne Geysen, et al.
Human Mutation|November 25, 2016
Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule SequencingSimon Ardui, Valerie Race, Alena Zablotskaya, et al.
Journal of Clinical Laboratory Analysis|April 11, 2022
DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of CongoMamy Ngole, Valerie Race, Gloire Mbayabo, et al.
Human Mutation|January 12, 2005
Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian studyGeneviève Michils, Sabine Tejpar, Reinhilde Thoelen, et al.
Genes, Chromosomes & Cancer|June 27, 2013
EPCAM germline and somatic rearrangements in Lynch syndrome: identification of a novel 3'EPCAM deletionMarijke Spaepen, Esther Neven, Xavier Sagaert, et al.
American Journal of Medical Genetics. Part A|July 2, 2015
ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutationLaureline Lepais, David Cheillan, Sophie Collardeau Frachon, et al.
Glycobiology|January 23, 2015
Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDGRiet Bammens, Nickita Mehta, Valérie Race, et al.
Science Advances|January 31, 2024
N-glycosylation as a eukaryotic protective mechanism against protein aggregationRamon Duran-Romaña, Bert Houben, Matthias De Vleeschouwer, et al.
Human Molecular Genetics|November 15, 2008
Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1Renate Zeevaert, François Foulquier, Boyan Dimitrov, et al.
Pageof 20