Resultats de la cerca - Lena Refsgaard
- Mostrar 1 - 5 resultats de 5
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New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants per Charlotte Andreasen, Jonas B. Nielsen, Lena Refsgaard, Anders G. Holst, Alex Hørby Christensen, Laura Andreasen, Ahmad Sajadieh, Stig Haunsø, Jesper Hastrup Svendsen, Morten S. Olesen
Publicat 2013Artigo -
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A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation per Morten S. Olesen, Lena Refsgaard, Anders G. Holst, Anders Peter Larsen, Søren Grubb, Stig Haunsø, Jesper Hastrup Svendsen, Søren‐Peter Olesen, Nicole Schmitt, Kirstine Calløe
Publicat 2013Artigo -
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Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation per Gustav Ahlberg, Lena Refsgaard, Pia R. Lundegaard, Laura Andreasen, Mattis Flyvholm Ranthe, Nora Linscheid, Jonas B. Nielsen, Mads Melbye, Stig Haunsø, Ahmad Sajadieh, Lu Camp, Søren‐Peter Olesen, Simon Rasmussen, Alicia Lundby, Patrick T. Ellinor, Anders G. Holst, Jesper Hastrup Svendsen, Morten S. Olesen
Publicat 2018Artigo -
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Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development per Jonas B. Nielsen, Lars G. Fritsche, Wei Zhou, Tanya M. Teslovich, Oddgeir L. Holmen, Stefan Gustafsson, Maiken E. Gabrielsen, Ellen M. Schmidt, Robin N. Beaumont, Brooke N. Wolford, Maoxuan Lin, Chad M. Brummett, Michael Preuß, Lena Refsgaard, Erwin P. Böttinger, Sarah E. Graham, Ida Surakka, Yunhan Chu, Anne Heidi Skogholt, Håvard Dalen, Alan P. Boyle, Hakan Oral, Todd J. Herron, Jacob O. Kitzman, José Jalife, Jesper Hastrup Svendsen, Morten S. Olesen, Inger Njølstad, Maja‐Lisa Løchen, Aris Baras, Omri Gottesman, Anthony Marcketta, Colm O’Dushlaine, Marylyn D. Ritchie, Tom Wilsgaard, Ruth J. F. Loos, Timothy M. Frayling, Michael Boehnke, Erik Ingelsson, David J. Carey, Frederick E. Dewey, Hyun Min Kang, Gonçalo R. Abecasis, Kristian Hveem, Cristen J. Willer
Publicat 2017Artigo
Eines de cerca:
Matèries relacionades
Biology
Gene
Genetics
Internal medicine
Medicine
Exome
Exome sequencing
Genotype
Mutation
Atrial fibrillation
Bioinformatics
Cardiology
Environmental health
Genotyping
Missense mutation
Population
Allele
Allele frequency
Brugada syndrome
Cardiomyopathy
Computer science
Gain of function
Genetic heterogeneity
Genome-wide association study
Genotype-phenotype distinction
Heart failure
Hypertrophic cardiomyopathy
Imputation (statistics)
Locus (genetics)
Long QT syndrome