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Publications by Sander Pajusalu

Compound Heterozygous SPATA5 Variants in Four Families and Functional Studies of SPATA5 Deficiency

European Journal of Human Genetics

English

The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients Without Parental Consanguinity

Molecular Syndromology

English

FLAD1 ‐associated Multiple Acyl‐CoA Dehydrogenase Deficiency Identified by Newborn Screening

Molecular genetics & genomic medicine

Molecular Biology

English

A Prenatally Diagnosed Case of Meckel-Gruber Syndrome With Novel Compound Heterozygous Pathogenic Variants in the TXNDC15 Gene

Molecular genetics & genomic medicine

Molecular Biology

English

The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients

Internal Medicine

Molecular Biology

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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