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Publications by Dirk J. Lefeber

Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy

Nature Communications

Molecular Biology

English

Clinical Utility Gene Card For: GALNT3 Defective Congenital Disorder of Glycosylation

European Journal of Human Genetics

English

An Intellectual Disability Syndrome With Single-Nucleotide Variants in O-GlcNAc Transferase

European Journal of Human Genetics

English

Transient Desialylation in Combination With a Novel Antithrombin Deficiency Causing a Severe and Recurrent Thrombosis Despite Anticoagulation Therapy

Scientific Reports

Multidisciplinary

English

Genetic Defects in Dolichol Metabolism

Journal of Inherited Metabolic Disease

English

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Molecular Control of Endothelial Cell Behaviour During Blood Vessel Morphogenesis

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Multidimensional Proteomics for Cell Biology

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DNA Methylation Pathways and Their Crosstalk With Histone Methylation

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Transcriptional Integration of Metabolism by the Nuclear Sterol-Activated Receptors LXR and FXR

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Tail-Anchored Membrane Protein Insertion Into the Endoplasmic Reticulum

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Dynamin, a Membrane-Remodelling GTPase

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Regulating the Regulator: Post-Translational Modification of RAS

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Trithorax Group Proteins: Switching Genes on and Keeping Them Active

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