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

Gerard C P Schaafsma

Showing results (1-10 of 9) with videos related to

Pageof 1
Sort By:
BMC Bioinformatics|December 1, 2018
Representativeness of variation benchmark datasetsGerard C P Schaafsma, Mauno Vihinen
Human Mutation|April 27, 2017
Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseasesGerard C P Schaafsma, Mauno Vihinen
Human Mutation|January 17, 2016
VariOtator, a Software Tool for Variation Annotation with the Variation OntologyGerard C P Schaafsma, Mauno Vihinen
Human Mutation|November 12, 2014
VariSNP, a benchmark database for variations from dbSNPGerard C P Schaafsma, Mauno Vihinen
Human Mutation|February 27, 2016
Human Variome Project Quality Assessment Criteria for Variation DatabasesMauno Vihinen, John M Hancock, Donna R Maglott, et al.
Human Mutation|April 14, 2025
BTKbase, Bruton Tyrosine Kinase Variant Database in X-Linked Agammaglobulinemia: Looking Back and AheadGerard C P Schaafsma, Jouni Väliaho, Qing Wang, et al.
Human Mutation|April 27, 2011
LOVD v.2.0: the next generation in gene variant databasesIvo F A C Fokkema, Peter E M Taschner, Gerard C P Schaafsma, et al.
Leukemia|February 2, 2021
BTK gatekeeper residue variation combined with cysteine 481 substitution causes super-resistance to irreversible inhibitors acalabrutinib, ibrutinib and zanubrutinibH Yesid Estupiñán, Qing Wang, Anna Berglöf, et al.
Human Mutation|January 4, 2012
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific databaseMatthew Bower, Rémi Salomon, Judith Allanson, et al.
Pageof 1

Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
BMC Bioinformatics|December 1, 2018
Representativeness of variation benchmark datasetsGerard C P Schaafsma, Mauno Vihinen
Human Mutation|April 27, 2017
Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseasesGerard C P Schaafsma, Mauno Vihinen
Human Mutation|January 17, 2016
VariOtator, a Software Tool for Variation Annotation with the Variation OntologyGerard C P Schaafsma, Mauno Vihinen
Human Mutation|November 12, 2014
VariSNP, a benchmark database for variations from dbSNPGerard C P Schaafsma, Mauno Vihinen
Human Mutation|February 27, 2016
Human Variome Project Quality Assessment Criteria for Variation DatabasesMauno Vihinen, John M Hancock, Donna R Maglott, et al.
Human Mutation|April 14, 2025
BTKbase, Bruton Tyrosine Kinase Variant Database in X-Linked Agammaglobulinemia: Looking Back and AheadGerard C P Schaafsma, Jouni Väliaho, Qing Wang, et al.
Human Mutation|April 27, 2011
LOVD v.2.0: the next generation in gene variant databasesIvo F A C Fokkema, Peter E M Taschner, Gerard C P Schaafsma, et al.
Leukemia|February 2, 2021
BTK gatekeeper residue variation combined with cysteine 481 substitution causes super-resistance to irreversible inhibitors acalabrutinib, ibrutinib and zanubrutinibH Yesid Estupiñán, Qing Wang, Anna Berglöf, et al.
Human Mutation|January 4, 2012
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific databaseMatthew Bower, Rémi Salomon, Judith Allanson, et al.
Pageof 1