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Gert Matthijs

Showing results (101-110 of 199) with videos related to

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Human Genetics|February 19, 2022
Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylationEline Blommaert, Natalia A Cherepanova, Frederik Staels, et al.
Medicina Clinica|February 15, 2018
Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancerJosé Luis Soto, Ignacio Blanco, Orland Díez, et al.
Acta Cardiologica|September 8, 2011
The CAREGENE study: genetic variants of the endothelium and aerobic power in patients with coronary artery diseaseSteven Onkelinx, Veronique Cornelissen, Johan Defoor, et al.
Neurobiology of Aging|July 23, 2013
Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort studySarah Debray, Valérie Race, Veerle Crabbé, et al.
European Journal of Human Genetics : EJHG|July 29, 2010
A standardized framework for the validation and verification of clinical molecular genetic testsChristopher J Mattocks, Michael A Morris, Gert Matthijs, et al.
Molecular Genetics and Metabolism|February 20, 2007
Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patientsEls Schollen, Liesbeth Keldermans, François Foulquier, et al.
Molecular Genetics and Metabolism Reports|February 8, 2021
SLC35A2-CDG: Novel variant and reviewDulce Quelhas, Joana Correia, Jaak Jaeken, et al.
Human Mutation|April 17, 2009
Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScannerNienke van der Stoep, Chantal D M van Paridon, Tom Janssens, et al.
BMC Public Health|July 30, 2014
From the set-up of a screening program of breast cancer patients to the identification of the first BRCA mutation in the DR CongoGertrude Luyeye Mvila, Sandra Postema, Guy Marchal, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathyTomas Robyns, Cuno Kuiperi, Jeroen Breckpot, et al.
Pageof 20

Showing results (101-110 of 199) with videos related to

Sort By:
Pageof 20
Human Genetics|February 19, 2022
Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylationEline Blommaert, Natalia A Cherepanova, Frederik Staels, et al.
Medicina Clinica|February 15, 2018
Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancerJosé Luis Soto, Ignacio Blanco, Orland Díez, et al.
Acta Cardiologica|September 8, 2011
The CAREGENE study: genetic variants of the endothelium and aerobic power in patients with coronary artery diseaseSteven Onkelinx, Veronique Cornelissen, Johan Defoor, et al.
Neurobiology of Aging|July 23, 2013
Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort studySarah Debray, Valérie Race, Veerle Crabbé, et al.
European Journal of Human Genetics : EJHG|July 29, 2010
A standardized framework for the validation and verification of clinical molecular genetic testsChristopher J Mattocks, Michael A Morris, Gert Matthijs, et al.
Molecular Genetics and Metabolism|February 20, 2007
Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patientsEls Schollen, Liesbeth Keldermans, François Foulquier, et al.
Molecular Genetics and Metabolism Reports|February 8, 2021
SLC35A2-CDG: Novel variant and reviewDulce Quelhas, Joana Correia, Jaak Jaeken, et al.
Human Mutation|April 17, 2009
Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScannerNienke van der Stoep, Chantal D M van Paridon, Tom Janssens, et al.
BMC Public Health|July 30, 2014
From the set-up of a screening program of breast cancer patients to the identification of the first BRCA mutation in the DR CongoGertrude Luyeye Mvila, Sandra Postema, Guy Marchal, et al.
European Journal of Human Genetics : EJHG|December 20, 2017
Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathyTomas Robyns, Cuno Kuiperi, Jeroen Breckpot, et al.
Pageof 20