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Omelkova, Michaela


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Research Output

An intellectual disability syndrome with single nucleotide variants in O-GlcNAc Transferase

Pravata, V., Omelkova, M., Stavridis, M., Desbiens, C. M., Stephen, H. M., Lefeber, D. J., Gécz, J., Gundogdu, M., Õunap, K., Joss, S., Schwartz, C. E., Wells, L. & van Aalten, D., 1 Jun 2020, In : European Journal of Human Genetics. 28, p. 706-714 9 p.

Research output: Contribution to journalArticle

Open Access
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