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Publications by Enrico Bertini

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome With Cranio-Facial and Skeletal Defects

American Journal of Human Genetics
Genetics
2017English

HiTSEE KNIME: A Visualization Tool for Hit Selection and Analysis in High-Throughput Screening Experiments for the KNIME Platform

BMC Bioinformatics
BiochemistryApplied MathematicsComputer Science ApplicationsStructural BiologyMolecular Biology
2012English

The Influence of Contour on Similarity Perception of Star Glyphs

IEEE Transactions on Visualization and Computer Graphics
Computer GraphicsPattern RecognitionComputer VisionComputer-Aided DesignSignal ProcessingSoftware
2014English

Identifying the Dynamics of Actin and Tubulin Polymerization in iPSCs and in iPSC-derived Neurons

Oncotarget
Oncology
2017English

Metabolic Consequences of Mitochondrial Coenzyme a Deficiency in Patients With PANK2 Mutations

Molecular Genetics and Metabolism
GeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2012English

Flowstrates: An Approach for Visual Exploration of Temporal Origin-Destination Data

Computer Graphics Forum
Computer NetworksComputer GraphicsComputer-Aided DesignCommunications
2011English

Protein Glutathionylation in Cellular Compartments: A Constitutive Redox Signal

Redox Report
BiochemistryClinical BiochemistryCell BiologyPhysiology
2012English

Novel Homozygous GBA2 Mutation in a Patient With Complicated Spastic Paraplegia

Clinical Neurology and Neurosurgery
MedicineSurgeryNeurology
2018English

Advanced Visual Analytics Interfaces

2010English

PLA2G6, Encoding a Phospholipase A2, Is Mutated in Neurodegenerative Disorders With High Brain Iron

Nature Genetics
Genetics
2006English

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