Publications
Export 2 results:
Author Title [ Year
] Filters: Author is Õunap, Katrin and Keyword is Phenotype [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).
