Research output per year
Supervised work per year
Supervised Work
Search results
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2024
A context-based approach to unravel Variants of (Uncertain) Significance
Muffels, I., 25 Sept 2024, Utrecht: Utrecht University. 347 p.Research output: Thesis › Doctoral thesis 1 (Research UU / Graduation UU)
Open AccessFile7 Downloads (Pure) -
2020
Batten Disease - Beyond the Blind Spots
Kuper, W., 14 Oct 2020, Utrecht University. 191 p.Research output: Thesis › Doctoral thesis 1 (Research UU / Graduation UU)
Open AccessFile5 Downloads (Pure) -
Hematopoietic Cell Transplantation in Inborn Errors of Metabolism: Hurdles to 'real' cure
van den Broek, B., 16 Dec 2020, Utrecht University. 225 p.Research output: Thesis › Doctoral thesis 1 (Research UU / Graduation UU)
Open AccessFile41 Downloads (Pure) -
Important insights from discrete details: Gaining insight in pathophysiology of inborn errors of metabolism through deep metabolic phenotyping
Haijes-Siepel, H., 14 May 2020, Utrecht University. 350 p.Research output: Thesis › Doctoral thesis 1 (Research UU / Graduation UU)
Open AccessFile101 Downloads (Pure) -
2019
Glutamate metabolism revisited: Clarifying the pathophysiology of GLS mutations
Rumping, L., 23 May 2019, Utrecht University. 165 p.Research output: Thesis › Doctoral thesis 1 (Research UU / Graduation UU)
Open AccessFile1 Downloads (Pure) -
2018
Lipid-based mixed micelles for oral delivery of vitamin K: Op lipide gebaseerde gemengde micellen voor orale toediening van vitamine K
Sun, F., 6 Jun 2018, Utrecht: Utrecht University.Research output: Thesis › Doctoral thesis 1 (Research UU / Graduation UU)