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Hans Tómas Björnsson - Prófessor

Hans Tómas Björnsson

–

Heilbrigðisvísindasvið

Hans Tómas Björnsson

Prófessor

Aðsetur
Sturlugata 8
Sími
5435070
Tölvupóstur
htb [hjá] hi.is

Starfseining
Læknadeild
Vefsíða
http://www.hi.is/~htb/

ORCID vefsíða
https://orcid.org/0000-0001-6635-6753
Rannsóknagátt – Hans Tómas Björnsson
Í vinnslu út haustmisseri 2022

Útgefið efni

2022

Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2PLOS Genetics
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemiaJournal of Inherited Metabolic Disease
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2

2021

2020

2019

2018

2017

2016

2015

The Mendelian disorders of the epigenetic machinery.

2014

2012

2009

HapMap methylation-associated SNPs, markers of germline DNA methylation, positively correlate with regional levels of human meiotic recombination.

2008

2007

Epigenetic specificity of loss of imprinting of the IGF2 gene in Wilms tumors.

2006

Transposon-derived repeats in the human genome and 5-methylcytosine-associated mutations in adjacent genes.

2004

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