Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Aida Telegrafi

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American Journal of Human Genetics
Genetics
2019English

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

American Journal of Human Genetics
Genetics
2018English

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

American Journal of Human Genetics
Genetics
2019English

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

Nature Communications
AstronomyGeneticsMolecular BiologyBiochemistryChemistryPhysics
2020English

Related publications

Spatial Organization and Signal Transduction at Intercellular Junctions

Nature Reviews Molecular Cell Biology
Cell BiologyMolecular Biology
2010English

Talins and Kindlins: Partners in Integrin-Mediated Adhesion

Nature Reviews Molecular Cell Biology
Cell BiologyMolecular Biology
2013English

Molecular Control of Endothelial Cell Behaviour During Blood Vessel Morphogenesis

Nature Reviews Molecular Cell Biology
Cell BiologyMolecular Biology
2011English

Multidimensional Proteomics for Cell Biology

Nature Reviews Molecular Cell Biology
Cell BiologyMolecular Biology
2015English

DNA Methylation Pathways and Their Crosstalk With Histone Methylation

Nature Reviews Molecular Cell Biology
Cell BiologyMolecular Biology
2015English

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

Nature Reviews Molecular Cell Biology
Cell BiologyMolecular Biology
2012English

Tail-Anchored Membrane Protein Insertion Into the Endoplasmic Reticulum

Nature Reviews Molecular Cell Biology
Cell BiologyMolecular Biology
2011English

Dynamin, a Membrane-Remodelling GTPase

Nature Reviews Molecular Cell Biology
Cell BiologyMolecular Biology
2012English

Regulating the Regulator: Post-Translational Modification of RAS

Nature Reviews Molecular Cell Biology
Cell BiologyMolecular Biology
2011English

Trithorax Group Proteins: Switching Genes on and Keeping Them Active

Nature Reviews Molecular Cell Biology
Cell BiologyMolecular Biology
2011English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy