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Publications by Chiara Bacchelli

Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

American Journal of Human Genetics

English

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

American Journal of Human Genetics

English

Mutations in Linker for Activation of T Cells (LAT) Lead to a Novel Form of Severe Combined Immunodeficiency

Journal of Allergy and Clinical Immunology

English

Novel Missense Variants in the RNF213 Gene From a European Family With Moyamoya Disease

Human Genome Variation

Molecular Biology

English

Reexamining the Role of TACI Coding Variants in Common Variable Immunodeficiency and Selective IgA Deficiency

Nature Genetics

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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