Publications
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Author Title [ Year] Filters: Keyword is Whole Exome Sequencing and Author is Õunap, Katrin [Clear All Filters]
Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency. Mol Genet Genomic Med 8, e1154 (2020).
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. Eur J Med Genet 63, 103660 (2020).