Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

E Schollen

Showing results (21-30 of 36) with videos related to

Pageof 4
Sort By:
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.
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.
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.
Archives of Disease in Childhood|September 25, 2001
Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannoseC J Hendriksz, P McClean, M J Henderson, et al.
Molecular and Cellular Biology|July 19, 2006
The normal phenotype of Pmm1-deficient mice suggests that Pmm1 is not essential for normal mouse developmentK Cromphout, W Vleugels, L Heykants, et al.
Human Mutation|November 3, 2000
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)G Matthijs, E Schollen, C Bjursell, et al.
Human Genetics|July 29, 2000
Multi-allelic origin of congenital disorder of glycosylation (CDG)-IcT Imbach, S Grünewald, B Schenk, et al.
Pageof 4

Showing results (21-30 of 36) with videos related to

Sort By:
Pageof 4
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.
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.
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.
Archives of Disease in Childhood|September 25, 2001
Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannoseC J Hendriksz, P McClean, M J Henderson, et al.
Molecular and Cellular Biology|July 19, 2006
The normal phenotype of Pmm1-deficient mice suggests that Pmm1 is not essential for normal mouse developmentK Cromphout, W Vleugels, L Heykants, et al.
Human Mutation|November 3, 2000
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)G Matthijs, E Schollen, C Bjursell, et al.
Human Genetics|July 29, 2000
Multi-allelic origin of congenital disorder of glycosylation (CDG)-IcT Imbach, S Grünewald, B Schenk, et al.
Pageof 4