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Hakon Jonsson

Showing results (11-20 of 33) with videos related to

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BMC Medical Genetics|November 16, 2017
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPABrynjar O Jensson, Sif Hansdottir, Gudny A Arnadottir, et al.
European Journal of Human Genetics : EJHG|August 31, 2021
Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population databaseRun Fridriksdottir, Arnar J Jonsson, Brynjar O Jensson, et al.
Nature Structural & Molecular Biology|January 29, 2024
Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombinationValgerdur Steinthorsdottir, Bjarni V Halldorsson, Hakon Jonsson, et al.
Nature Genetics|March 26, 2025
Rare loss-of-function variants in HECTD2 and AKAP11 confer risk of bipolar disorderThorgeir E Thorgeirsson, Vinicius Tragante, Gardar Sveinbjornsson, et al.
Circulation. Genomic and Precision Medicine|December 14, 2020
Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in <i>LDLR</i>Eythor Bjornsson, Kristbjorg Gunnarsdottir, Gisli H Halldorsson, et al.
Nature Genetics|November 6, 2023
Genetics and epidemiology of mutational barcode-defined clonal hematopoiesisSimon N Stacey, Florian Zink, Gisli H Halldorsson, et al.
Nature Genetics|May 11, 2021
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traitsDoruk Beyter, Helga Ingimundardottir, Asmundur Oddsson, et al.
Communications Biology|October 2, 2018
A rare missense variant in <i>NR1H4</i> associates with lower cholesterol levelsAimee M Deaton, Patrick Sulem, Paul Nioi, et al.
Nature Genetics|July 24, 2024
The correlation between CpG methylation and gene expression is driven by sequence variantsOlafur Andri Stefansson, Brynja Dogg Sigurpalsdottir, Solvi Rognvaldsson, et al.
Nature|September 11, 2024
Genetic links between ovarian ageing, cancer risk and de novo mutation ratesStasa Stankovic, Saleh Shekari, Qin Qin Huang, et al.
Pageof 4

Showing results (11-20 of 33) with videos related to

Sort By:
Pageof 4
BMC Medical Genetics|November 16, 2017
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPABrynjar O Jensson, Sif Hansdottir, Gudny A Arnadottir, et al.
European Journal of Human Genetics : EJHG|August 31, 2021
Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population databaseRun Fridriksdottir, Arnar J Jonsson, Brynjar O Jensson, et al.
Nature Structural & Molecular Biology|January 29, 2024
Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombinationValgerdur Steinthorsdottir, Bjarni V Halldorsson, Hakon Jonsson, et al.
Nature Genetics|March 26, 2025
Rare loss-of-function variants in HECTD2 and AKAP11 confer risk of bipolar disorderThorgeir E Thorgeirsson, Vinicius Tragante, Gardar Sveinbjornsson, et al.
Circulation. Genomic and Precision Medicine|December 14, 2020
Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in <i>LDLR</i>Eythor Bjornsson, Kristbjorg Gunnarsdottir, Gisli H Halldorsson, et al.
Nature Genetics|November 6, 2023
Genetics and epidemiology of mutational barcode-defined clonal hematopoiesisSimon N Stacey, Florian Zink, Gisli H Halldorsson, et al.
Nature Genetics|May 11, 2021
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traitsDoruk Beyter, Helga Ingimundardottir, Asmundur Oddsson, et al.
Communications Biology|October 2, 2018
A rare missense variant in <i>NR1H4</i> associates with lower cholesterol levelsAimee M Deaton, Patrick Sulem, Paul Nioi, et al.
Nature Genetics|July 24, 2024
The correlation between CpG methylation and gene expression is driven by sequence variantsOlafur Andri Stefansson, Brynja Dogg Sigurpalsdottir, Solvi Rognvaldsson, et al.
Nature|September 11, 2024
Genetic links between ovarian ageing, cancer risk and de novo mutation ratesStasa Stankovic, Saleh Shekari, Qin Qin Huang, et al.
Pageof 4