Publications
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Author Title [ Year] Filters: Keyword is Phenotype and Author is Õunap, Katrin [Clear All Filters]
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. Am J Hum Genet 108, 749-756 (2021).
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. Eur J Med Genet 63, 103660 (2020).