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G Matthijs

Showing results (91-100 of 157) with videos related to

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Clinical Genetics|April 12, 2014
Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDGP Yuste-Checa, C Medrano, A Gámez, et al.
Human Genetics|October 6, 1998
Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330)K Devriendt, G Matthijs, B Van Damme, et al.
European Journal of Neurology|November 20, 2009
The occurrence of mutations in FUS in a Belgian cohort of patients with familial ALSP Van Damme, A Goris, V Race, et al.
Human Molecular Genetics|March 21, 1998
Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional geneE Schollen, E Pardon, L Heykants, et al.
American Journal of Medical Genetics. Part A|September 11, 2003
Rett syndrome in adolescent and adult females: clinical and molecular genetic findingsE Smeets, E Schollen, U Moog, et al.
American Journal of Human Genetics|March 1, 1997
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenitaK Devriendt, G Matthijs, E Legius, et al.
Annals of Neurology|November 1, 1996
Clinical and molecular genetic features of congenital spinal muscular atrophyK Devriendt, M Lammens, E Schollen, et al.
Genomics|August 1, 1996
Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1)G Matthijs, E Legius, E Schollen, et al.
Journal of Medical Genetics|May 3, 2005
Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathyT Rossenbacker, E Schollen, C Kuipéri, et al.
Journal of Medical Genetics|July 13, 2002
Localisation of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromereS Kirsch, B Weiss, S Kleiman, et al.
Pageof 16

Showing results (91-100 of 157) with videos related to

Sort By:
Pageof 16
Clinical Genetics|April 12, 2014
Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDGP Yuste-Checa, C Medrano, A Gámez, et al.
Human Genetics|October 6, 1998
Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330)K Devriendt, G Matthijs, B Van Damme, et al.
European Journal of Neurology|November 20, 2009
The occurrence of mutations in FUS in a Belgian cohort of patients with familial ALSP Van Damme, A Goris, V Race, et al.
Human Molecular Genetics|March 21, 1998
Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional geneE Schollen, E Pardon, L Heykants, et al.
American Journal of Medical Genetics. Part A|September 11, 2003
Rett syndrome in adolescent and adult females: clinical and molecular genetic findingsE Smeets, E Schollen, U Moog, et al.
American Journal of Human Genetics|March 1, 1997
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenitaK Devriendt, G Matthijs, E Legius, et al.
Annals of Neurology|November 1, 1996
Clinical and molecular genetic features of congenital spinal muscular atrophyK Devriendt, M Lammens, E Schollen, et al.
Genomics|August 1, 1996
Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1)G Matthijs, E Legius, E Schollen, et al.
Journal of Medical Genetics|May 3, 2005
Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathyT Rossenbacker, E Schollen, C Kuipéri, et al.
Journal of Medical Genetics|July 13, 2002
Localisation of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromereS Kirsch, B Weiss, S Kleiman, et al.
Pageof 16