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Dolichol
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publication
A new role for dolichol isoform profile in the diagnostics of CDG disorders
2020 |
First Faculty of Medicine
publication
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
2022 |
First Faculty of Medicine
publication
Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation
2014 |
First Faculty of Medicine
publication
Structural basis of heterotetrameric assembly and disease mutations in the human cis-prenyltransferase complex
2020 |
Faculty of Science, Central Library of Charles University