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Hildigunnur Katrinardottir

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

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Laeknabladid|May 27, 2026
[Congenital insensitivity to pain caused by a novel SCN9A-genotype]Thorsteinn Bjornsson, Elias Olafsson, Hildigunnur Katrinardottir, et al.
European Journal of Human Genetics : EJHG|March 12, 2021
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiencyHrafnhildur L Runolfsdottir, John A Sayer, Olafur S Indridason, et al.
European Journal of Human Genetics : EJHG|September 8, 2023
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndromeElin Ola Klemenzdottir, Gudny Anna Arnadottir, Brynjar Orn Jensson, et al.
Journal of the American Heart Association|July 14, 2023
Screening for Rare Coding Variants That Associate With the QTc Interval in IcelandGardar Sveinbjornsson, Bara D Benediktsdottir, Gunnlaugur Sigfusson, 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.
Communications Biology|June 1, 2022
Genetic architecture of band neutrophil fraction in IcelandGudjon R Oskarsson, Magnus K Magnusson, Asmundur Oddsson, et al.
Nature Communications|February 5, 2022
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome geneGudny A Arnadottir, Asmundur Oddsson, Brynjar O Jensson, et al.
Communications Biology|July 10, 2023
Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticariaRagnar P Kristjansson, Gudjon R Oskarsson, Astros Skuladottir, et al.
Communications Biology|April 25, 2020
Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesisGudjon R Oskarsson, Asmundur Oddsson, Magnus K Magnusson, et al.
Nature Genetics|December 3, 2021
Large-scale integration of the plasma proteome with genetics and diseaseEgil Ferkingstad, Patrick Sulem, Bjarni A Atlason, et al.
Pageof 2

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

Sort By:
Pageof 2
Laeknabladid|May 27, 2026
[Congenital insensitivity to pain caused by a novel SCN9A-genotype]Thorsteinn Bjornsson, Elias Olafsson, Hildigunnur Katrinardottir, et al.
European Journal of Human Genetics : EJHG|March 12, 2021
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiencyHrafnhildur L Runolfsdottir, John A Sayer, Olafur S Indridason, et al.
European Journal of Human Genetics : EJHG|September 8, 2023
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndromeElin Ola Klemenzdottir, Gudny Anna Arnadottir, Brynjar Orn Jensson, et al.
Journal of the American Heart Association|July 14, 2023
Screening for Rare Coding Variants That Associate With the QTc Interval in IcelandGardar Sveinbjornsson, Bara D Benediktsdottir, Gunnlaugur Sigfusson, 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.
Communications Biology|June 1, 2022
Genetic architecture of band neutrophil fraction in IcelandGudjon R Oskarsson, Magnus K Magnusson, Asmundur Oddsson, et al.
Nature Communications|February 5, 2022
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome geneGudny A Arnadottir, Asmundur Oddsson, Brynjar O Jensson, et al.
Communications Biology|July 10, 2023
Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticariaRagnar P Kristjansson, Gudjon R Oskarsson, Astros Skuladottir, et al.
Communications Biology|April 25, 2020
Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesisGudjon R Oskarsson, Asmundur Oddsson, Magnus K Magnusson, et al.
Nature Genetics|December 3, 2021
Large-scale integration of the plasma proteome with genetics and diseaseEgil Ferkingstad, Patrick Sulem, Bjarni A Atlason, et al.
Pageof 2