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Rate of de novo mutations and the importance of father's age to disease riskLarge recurrent microdeletions associated with schizophreniaMutations in BRIP1 confer high risk of ovarian cancerA rare variant in MYH6 is associated with high risk of sick sinus syndromeGermline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinomaDiscovery of common variants associated with low TSH levels and thyroid cancer riskGenome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysmAncestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus.Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.A sequence variant on 17q21 is associated with age at onset and severity of asthma.Identification of a large set of rare complete human knockouts.Sequence variants in the RNF212 gene associate with genome-wide recombination rate.Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche.Rare mutations associating with serum creatinine and chronic kidney disease.A germline variant in the TP53 polyadenylation signal confers cancer susceptibilityMulti-nucleotide de novo Mutations in Humans.A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma.Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase.Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer.Parental origin of sequence variants associated with complex diseasesHLA class II sequence variants influence tuberculosis risk in populations of European ancestry.The rate of meiotic gene conversion varies by sex and age.Diversity in non-repetitive human sequences not found in the reference genome.Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease.Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease.Whole genome characterization of sequence diversity of 15,220 Icelanders
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
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ricercatrice
@it
հետազոտող
@hy
name
Aslaug Jonasdottir
@ast
Aslaug Jonasdottir
@en
Aslaug Jonasdottir
@es
Aslaug Jonasdottir
@nl
Aslaug Jonasdottir
@sl
type
label
Aslaug Jonasdottir
@ast
Aslaug Jonasdottir
@en
Aslaug Jonasdottir
@es
Aslaug Jonasdottir
@nl
Aslaug Jonasdottir
@sl
prefLabel
Aslaug Jonasdottir
@ast
Aslaug Jonasdottir
@en
Aslaug Jonasdottir
@es
Aslaug Jonasdottir
@nl
Aslaug Jonasdottir
@sl
P106
P21
P214
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