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Ivo F A C Fokkema

Showing results (1-10 of 12) with videos related to

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Human Mutation|June 25, 2005
LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approachIvo F A C Fokkema, Johan T den Dunnen, Peter E M Taschner
European Journal of Human Genetics : EJHG|September 15, 2021
The LOVD3 platform: efficient genome-wide sharing of genetic variantsIvo F A C Fokkema, Mark Kroon, Julia A López Hernández, et al.
Plos One|April 11, 2018
Ribosome profiling uncovers selective mRNA translation associated with eIF2 phosphorylation in erythroid progenitorsNahuel A Paolini, Kat S Moore, Franca M di Summa, 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.
Human Mutation|June 21, 2012
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanismsPhilippe M Campeau, James T Lu, Brian C Dawson, et al.
Genome Medicine|December 20, 2024
HGVS Nomenclature 2024: improvements to community engagement, usability, and computabilityReece K Hart, Ivo F A C Fokkema, Marina DiStefano, et al.
European Journal of Human Genetics : EJHG|February 11, 2010
Therapeutic exon skipping for dysferlinopathies?Annemieke Aartsma-Rus, Kavita H K Singh, Ivo F A C Fokkema, et al.
Human Mutation|August 2, 2013
The Finnish disease heritage database (FinDis) update-a database for the genes mutated in the Finnish disease heritage brought to the next-generation sequencing eraAnne Polvi, Henna Linturi, Teppo Varilo, et al.
European Journal of Human Genetics : EJHG|April 8, 2004
beta-Globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarraysColine H M van Moorsel, Erwin E van Wijngaarden, Ivo F A C Fokkema, et al.
Nucleic Acids Research|April 16, 2015
Assessing the translational landscape of myogenic differentiation by ribosome profilingEleonora de Klerk, Ivo F A C Fokkema, Klaske A M H Thiadens, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Human Mutation|June 25, 2005
LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approachIvo F A C Fokkema, Johan T den Dunnen, Peter E M Taschner
European Journal of Human Genetics : EJHG|September 15, 2021
The LOVD3 platform: efficient genome-wide sharing of genetic variantsIvo F A C Fokkema, Mark Kroon, Julia A López Hernández, et al.
Plos One|April 11, 2018
Ribosome profiling uncovers selective mRNA translation associated with eIF2 phosphorylation in erythroid progenitorsNahuel A Paolini, Kat S Moore, Franca M di Summa, 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.
Human Mutation|June 21, 2012
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanismsPhilippe M Campeau, James T Lu, Brian C Dawson, et al.
Genome Medicine|December 20, 2024
HGVS Nomenclature 2024: improvements to community engagement, usability, and computabilityReece K Hart, Ivo F A C Fokkema, Marina DiStefano, et al.
European Journal of Human Genetics : EJHG|February 11, 2010
Therapeutic exon skipping for dysferlinopathies?Annemieke Aartsma-Rus, Kavita H K Singh, Ivo F A C Fokkema, et al.
Human Mutation|August 2, 2013
The Finnish disease heritage database (FinDis) update-a database for the genes mutated in the Finnish disease heritage brought to the next-generation sequencing eraAnne Polvi, Henna Linturi, Teppo Varilo, et al.
European Journal of Human Genetics : EJHG|April 8, 2004
beta-Globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarraysColine H M van Moorsel, Erwin E van Wijngaarden, Ivo F A C Fokkema, et al.
Nucleic Acids Research|April 16, 2015
Assessing the translational landscape of myogenic differentiation by ribosome profilingEleonora de Klerk, Ivo F A C Fokkema, Klaske A M H Thiadens, et al.
Pageof 2