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

Veronica Pravata, Michaela Omelkova, Marios Stavridis, Chelsea M. Desbiens, Hannah M. Stephen, Dirk J. Lefeber, Jozef Gécz, Mehmet Gundogdu, Katrin Õunap, Shelagh Joss, Charles E. Schwartz, Lance Wells (Lead / Corresponding author), Daan van Aalten (Lead / Corresponding author)

DArcy Thompson Unit

Research output: Contribution to journal › Article › peer-review

40 Citations (Scopus)

169 Downloads (Pure)

2 results
- Title(descending)
- Award date

Deciphering the causes and effects of O-GlcNAc Transferase nucleotide variants in neurodevelopmental disorders
Pravata, V. M. (Author), van Aalten, D. (Supervisor), 2021
Student thesis: Doctoral Thesis › Doctor of Philosophy
Investigating the effects of pathogenic O-GlcNAc transferase variants on early development
Omelkova, M. (Author), van Aalten, D. (Supervisor) & Stavridis, M. (Supervisor), 2022
Student thesis: Doctoral Thesis › Doctor of Philosophy