Publications
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Filters: Author is Stray-Pedersen, Asbjørg and Keyword is Cohort Studies [Clear All Filters]
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 ;45(4):1633-1648.
. Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. 2018 ;132(1):89-100.
. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 ;21(3):663-675.
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