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The New England Journal of Medicine
|
March 6, 2024
Actionable Genotypes and Life Span in Iceland. Reply
Brynjar O Jensson, Kari Stefansson, Patrick Sulem
Kidney International Reports
|
May 14, 2023
Factor B Mutation in Monozygotic Twins Discordant for Atypical Hemolytic Uremic Syndrome
Sigridur Sunna Aradottir, Ann-Charlotte Kristoffersson, Brynjar O Jensson, et al.
European Journal of Human Genetics : EJHG
|
March 12, 2021
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency
Hrafnhildur L Runolfsdottir, John A Sayer, Olafur S Indridason, et al.
BMC Medical Genetics
|
October 3, 2017
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters
Gudny A Arnadottir, Brynjar O Jensson, Sigurdur E Marelsson, et al.
Journal of the American Heart Association
|
July 14, 2023
Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland
Gardar Sveinbjornsson, Bara D Benediktsdottir, Gunnlaugur Sigfusson, et al.
BMC Medical Genetics
|
November 16, 2017
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA
Brynjar O Jensson, Sif Hansdottir, Gudny A Arnadottir, et al.
NPJ Parkinson'S Disease
|
August 15, 2024
Loss-of-function variants in ITSN1 confer high risk of Parkinson's disease
Astros Th Skuladottir, Vinicius Tragante, Gardar Sveinbjornsson, et al.
Nature Communications
|
February 4, 2016
Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase
Ragnar P Kristjansson, Asmundur Oddsson, Hannes Helgason, et al.
Circulation. Genomic and Precision Medicine
|
October 26, 2018
Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death
Gardar Sveinbjornsson, Eva F Olafsdottir, Rosa B Thorolfsdottir, et al.
Communications Biology
|
October 2, 2018
A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin
Gudjon R Oskarsson, Ragnar P Kristjansson, Amy L Lee, et al.
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Showing results (1-10 of 40) with videos related to
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Page
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The New England Journal of Medicine
|
March 6, 2024
Actionable Genotypes and Life Span in Iceland. Reply
Brynjar O Jensson, Kari Stefansson, Patrick Sulem
Kidney International Reports
|
May 14, 2023
Factor B Mutation in Monozygotic Twins Discordant for Atypical Hemolytic Uremic Syndrome
Sigridur Sunna Aradottir, Ann-Charlotte Kristoffersson, Brynjar O Jensson, et al.
European Journal of Human Genetics : EJHG
|
March 12, 2021
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency
Hrafnhildur L Runolfsdottir, John A Sayer, Olafur S Indridason, et al.
BMC Medical Genetics
|
October 3, 2017
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters
Gudny A Arnadottir, Brynjar O Jensson, Sigurdur E Marelsson, et al.
Journal of the American Heart Association
|
July 14, 2023
Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland
Gardar Sveinbjornsson, Bara D Benediktsdottir, Gunnlaugur Sigfusson, et al.
BMC Medical Genetics
|
November 16, 2017
COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA
Brynjar O Jensson, Sif Hansdottir, Gudny A Arnadottir, et al.
NPJ Parkinson'S Disease
|
August 15, 2024
Loss-of-function variants in ITSN1 confer high risk of Parkinson's disease
Astros Th Skuladottir, Vinicius Tragante, Gardar Sveinbjornsson, et al.
Nature Communications
|
February 4, 2016
Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase
Ragnar P Kristjansson, Asmundur Oddsson, Hannes Helgason, et al.
Circulation. Genomic and Precision Medicine
|
October 26, 2018
Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death
Gardar Sveinbjornsson, Eva F Olafsdottir, Rosa B Thorolfsdottir, et al.
Communications Biology
|
October 2, 2018
A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin
Gudjon R Oskarsson, Ragnar P Kristjansson, Amy L Lee, et al.
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